JAX Mouse Strain Datasheet - 008209

FVB.Cg-Grm7^{Tg(SMN2)89Ahmb} Smn1^tm1Msd Tg(ACTA1-SMN)69Ahmb/J

Stock No:: 008209

Cryo Recovery

Overview

These SMN2; Smn; HSA69-SMN mice may be useful for neuromuscular studies including spinal muscular atrophy (SMA).

Donating Investigator

Arthur H.M. Burghes, The Ohio State University

Genetic overview

Genetic Background	Generation

Grm7^{Tg(SMN2)89Ahmb}

Allele Type
Transgenic (Humanized sequence, Hypomorph, Inserted expressed sequence)

Smn1^tm1Msd

Allele Type	Gene Symbol	Gene Name
Targeted (Null/Knockout, Reporter)	Smn1	survival motor neuron 1

Allele Type
Transgenic (Humanized sequence, Inserted expressed sequence)

Research Applications

Developmental Biology Research
Neurobiology Research
Research Tools

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Details

Detailed Description

As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1^tm1Msd targeted mutation (Smn null allele) and human SMN2 low copy line 89 transgene exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the HSA-SMN transgene; with the human alpha-skeletal actin (HSA or ACTA1) promoter directing full-length human SMN expression at high levels in skeletal muscle. When the HSA-SMN transgene is derived from HSA69-SMN founder mice, skeletal muscle-specific SMN expression is preserved, and homozygous SMN2; Smn; HSA69-SMN mutant animals (Stock No. 008209) have the same phenotype as homozygous SMA mice. In contrast, expression of the HSA-SMN transgene derived from HSA63-SMN founder mice is leaky; with high SMN expression in heart and low SMN expression in spinal cord, brain, and liver. This additional SMN expression in neural cells rescues homozygous SMN2; Smn; HSA63-SMN mice (Stock No. 008203) from the severe SMA phenotype and significantly increases lifespan (average 160 days). Homozygous SMN2; Smn; HSA63-SMN mice also exhibit necrotic tail development with loss of the tail giving them a "hamster" appearance. These SMN2; Smn; HSA69-SMN mice may be useful for neuromuscular studies including spinal muscular atrophy (SMA).

Development

These SMN2; Smn; HSA69-SMN mutant mice harbor a targeted mutation and two trangenes, all independently created.

The Smn1^tm1Msd targeted mutation was created in the laboratory of Dr. Michael Sendtner at the University of Wurzburg, Germany. Exon 2 of the targeted gene was disrupted with a neomycin cassette and a lacZ gene (fused to the first 40 nucleotides of the disrupted exon to permit expression of the lacZ gene in tissues where Smn is normally expressed). The construct was electroporated into 129P2/OlaHsd-derived E14Tg2a-IV embryonic stem (ES) cells. Chimeric animals were crossed to C57BL/6 for an unspecified number of generations.

The HSA-SMN transgene was designed with the human alpha-skeletal actin (HSA or ACTA1) promoter region, splice acceptor site from the SV40 VP1 intron, full-length humsn SMN cDNA (containing exons 1-8), and two SV40 polyA signals. This transgene was microinjected into fertilized FVB/N oocytes. Mice from founder line 69 (HSA69-SMN) were found to have 11 copies of the transgene.

The SMN2 transgene was created in the laboratory of Dr. Arthur Burghes at The Ohio State University. A 35.5 kb BamHI genomic fragment encoding the human SMN2 promoter and gene (derived from genomic clone PAC215P15) was injected into fertilized FVB/N mouse oocytes and founder animals obtained. Transgenic SMN2 mice from founder line 89 were established and found to contain one copy of the transgene (also called SMN2 low copy line 89).

To generate the SMN2; Smn; HSA69-SMN mutant strain, FVB/N SMA carrier mice (heterozygous for the Smn1^tm1Msd targeted mutation and homozygous for the SMN2 low copy line 89 transgene and backcrossed to FVB/N for at least 5 generations) were bred with FVB/N HSA69-SMN mice. Mice heterozygous for the targeted mutation, heterozygous for the HSA69-SMN transgene, and homozygous for the SMN2 low copy line 89 transgene were maintained for many generations prior to arrival at The Jackson Laboratory.

Expression Data

Expressed Gene	SMN2, survival of motor neuron 2, centromeric, human
Site of Expression	Dendrites, axons, and soma of spinal motor neurons display distinct expression of GFP. GFP expression mimics endogenous HLXB9 expression pattern. Fluorscence is detected in axons, dendrites, and processes of spinal motor neurons at embryonic day 9.5 to postnatal day 10 aged mice.
Expressed Gene	lacZ, beta-galactosidase, E. coli
Site of Expression	The expression of the lacZ gene in tissues where Smn is normally expressed was noted.
Expressed Gene	SMN1, survival of motor neuron 1, telomeric, human
Site of Expression	The expression of the lacZ gene in tissues where Smn is normally expressed was noted.

Control Suggestions

001800 FVB/NJ

Additional Information

Considerations for Choosing Controls

Selected References

Gavrilina TO; McGovern VL; Workman E; Crawford TO; Gogliotti RG; Didonato CJ; Monani UR; Morris GE; Burghes HM. 2008. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle specific SMN expression has no phenotypic effect. Hum Mol Genet :. PubMed: 18178576 MGI: J:131663

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Genetics

Grm7^{Tg(SMN2)89Ahmb}

Allele Symbol: Grm7^{Tg(SMN2)89Ahmb}

Allele Name	transgene insertion 89, Arthur H M Burghes
Allele Type	Transgenic (Humanized sequence, Hypomorph, Inserted expressed sequence)
Allele Synonym(s)	SMN2
Gene Symbol and Name	Grm7, glutamate receptor, metabotropic 7
Gene Synonym(s)	6330570A01Rik; 6330570A01Rik; BB176677; E130018M02Rik; E130018M02Rik; G protein-coupled receptor, family C, group 1, member G; GLUR7; GPRC1G; Gpr1g; Gpr1g; MGLU7; MGLUR7; PPP1R87; RIKEN cDNA 6330570A01 gene; RIKEN cDNA E130018M02 gene; SMN2; Tg(SMN2)89Ahmb; Tg(SMN2)89Ahmb; expressed sequence BB176677; mGlu7a receptor; mGluR7; transgene insertion 89, Arthur H M Burghes
Promoter	SMN2, survival of motor neuron 2, centromeric, human
Expressed Gene	SMN2, survival of motor neuron 2, centromeric, human
Site of Expression	Dendrites, axons, and soma of spinal motor neurons display distinct expression of GFP. GFP expression mimics endogenous HLXB9 expression pattern. Fluorscence is detected in axons, dendrites, and processes of spinal motor neurons at embryonic day 9.5 to postnatal day 10 aged mice.
Strain of Origin	FVB/N
Chromosome	6
Molecular Note	A 35.5 kb genomic fragment containing the human survival motor neuron 2 (SMN2) gene and promoter was used for the transgene. The transgene is ubiquitously expressed in all tissues examined by Northern blot analysis. Line 89 carries 1 copy of the transgene integrated into intron 4 of the gene. RT-PCR confirmed reduced expression of the gene the transgene is integrated into.
Mutations Made By	Arthur Burghes, The Ohio State University

Smn1^tm1Msd

Allele Symbol: Smn1^tm1Msd

Allele Name	targeted mutation 1, Michael Sendtner
Allele Type	Targeted (Null/Knockout, Reporter)
Allele Synonym(s)	SMN^-
Gene Symbol and Name	Smn1, survival motor neuron 1
Gene Synonym(s)	AI849087; BCD541; C-BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNC; SMNT; Smn; Smn; T-BCD541; TDRD16A; TDRD16B; expressed sequence AI849087; survival motor neuron
Expressed Gene	lacZ, beta-galactosidase, E. coli
Site of Expression	The expression of the lacZ gene in tissues where Smn is normally expressed was noted.
Strain of Origin	129P2/OlaHsd
Chromosome	13
Molecular Note	A lacZ-neo cassette was inserted into exon 2 by homologous recombination resulting in an in-frame fusion of lacZ to exon 2. Homozygous mutant embryos were identified up to 80 hours post coitum. The expression of the lacZ gene in tissues where Smn is normally expressed was noted.
Mutations Made By	Michael Sendtner

Tg(ACTA1-SMN)69Ahmb

Allele Symbol: Tg(ACTA1-SMN)69Ahmb

Allele Name	transgene insertion 69, Arthur H M Burghes
Allele Type	Transgenic (Humanized sequence, Inserted expressed sequence)
Allele Synonym(s)	HSA69-SMN
Gene Symbol and Name	Tg(ACTA1-SMN)69Ahmb, transgene insertion 69, Arthur H M Burghes
Gene Synonym(s)	HSA69-SMN
Promoter	ACTA1, actin, alpha 1, skeletal muscle, human
Expressed Gene	SMN1, survival of motor neuron 1, telomeric, human
Site of Expression	The expression of the lacZ gene in tissues where Smn is normally expressed was noted.
Strain of Origin	FVB/N
Chromosome	UN
Molecular Note	The HSA-SMN transgene was designed with the human alpha-skeletal actin (HSA or ACTA1) promoter region, splice acceptor site from the SV40 VP1 intron, full-length humsn SMN cDNA (containing exons 1-8), and two SV40 polyA signals. Mice from founder line 69 (HSA69-SMN) were found to have 11 copies of the transgene.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Developmental Biology Research
- Neurodevelopmental Defects
- Perinatal Lethality
Neurobiology Research
- lacZ expression in neural tissue
- Ataxia (Movement) Defects
- Neurodegeneration
- Neurodevelopmental Defects
- Spinal Muscular Atrophy (SMA)
Research Tools
- lacZ Expression
- Genetics Research
  - Tissue/Cell Markers
  - Tissue/Cell Markers: multiple
  - Tissue/Cell Markers: neurons
- Neurobiology Research
  - cell marker

Genotype: Smn1^tm1Msd related

Neurobiology Research
- Spinal Muscular Atrophy (SMA)

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Smn1^tm1Msd/Smn1^tm1Msd Tg(ACTA1-SMN)69Ahmb/Tg(ACTA1-SMN)69Ahmb Grm7^{Tg(SMN2)89Ahmb}/Grm7^{Tg(SMN2)89Ahmb}
involves: 129P2/OlaHsd * FVB/N

mortality/aging

postnatal lethality, complete penetrance
- mice survive an average of 3.5 days, not significantly different from mean lifespan of 4.6 days of Smn1^tm1Msd homozygotes

References

Gavrilina TO; McGovern VL; Workman E; Crawford TO; Gogliotti RG; Didonato CJ; Monani UR; Morris GE; Burghes HM. 2008. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle specific SMN expression has no phenotypic effect. Hum Mol Genet :. PubMed: 18178576 MGI: J:131663

Additional - Grm7^{Tg(SMN2)89Ahmb} related

Ahmad S; Wang Y; Shaik GM; Burghes AH; Gangwani L. 2012. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. Hum Mol Genet 21(12):2745-58. PubMed: 22422766 MGI: J:184463
Avila AM; Burnett BG; Taye AA; Gabanella F; Knight MA; Hartenstein P; Cizman Z; Di Prospero NA; Pellizzoni L; Fischbeck KH; Sumner CJ. 2007. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest 117(3):659-71. PubMed: 17318264 MGI: J:120738
Baumer D; Lee S; Nicholson G; Davies JL; Parkinson NJ; Murray LM; Gillingwater TH; Ansorge O; Davies KE; Talbot K. 2009. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet 5(12):e1000773. PubMed: 20019802 MGI: J:161744
Bebee TW; Dominguez CE; Samadzadeh-Tarighat S; Akehurst KL; Chandler DS. 2012. Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model. Hum Mol Genet 21(19):4301-13. PubMed: 22763238 MGI: J:187404
Bevan AK; Hutchinson KR; Foust KD; Braun L; McGovern VL; Schmelzer L; Ward JG; Petruska JC; Lucchesi PA; Burghes AH; Kaspar BK. 2010. Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet 19(20):3895-905. PubMed: 20639395 MGI: J:164456
Bogdanik LP; Osborne MA; Davis C; Martin WP; Austin A; Rigo F; Bennett CF; Lutz CM. 2015. Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy. Proc Natl Acad Sci U S A 112(43):E5863-72. PubMed: 26460027 MGI: J:227184
Bosch-Marce M; Wee CD; Martinez TL; Lipkes CE; Choe DW; Kong L; Van Meerbeke JP; Musaro A; Sumner CJ. 2011. Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet 20(9):1844-53. PubMed: 21325354 MGI: J:170476
Bowerman M; Beauvais A; Anderson CL; Kothary R. 2010. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 19(8):1468-78. PubMed: 20097679 MGI: J:158345
Boyer JG; Deguise MO; Murray LM; Yazdani A; De Repentigny Y; Boudreau-Lariviere C; Kothary R. 2014. Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy. Hum Mol Genet 23(16):4249-59. PubMed: 24691550 MGI: J:213423
Boyer JG; Murray LM; Scott K; De Repentigny Y; Renaud JM; Kothary R. 2013. Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy. Skelet Muscle 3(1):24. PubMed: 24119341 MGI: J:202752
Bricceno KV; Martinez T; Leikina E; Duguez S; Partridge TA; Chernomordik LV; Fischbeck KH; Sumner CJ; Burnett BG. 2014. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Hum Mol Genet 23(18):4745-57. PubMed: 24760765 MGI: J:213599
Butchbach ME; Edwards JD; Burghes AH. 2007. Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis 27(2):207-19. PubMed: 17561409 MGI: J:134824
Butchbach ME; Rose FF Jr; Rhoades S; Marston J; McCrone JT; Sinnott R; Lorson CL. 2010. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun 391(1):835-40. PubMed: 19945425 MGI: J:156779
Cobb MS; Rose FF; Rindt H; Glascock JJ; Shababi M; Miller MR; Osman EY; Yen PF; Garcia ML; Martin BR; Wetz MJ; Mazzasette C; Feng Z; Ko CP; Lorson CL. 2013. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Hum Mol Genet 22(9):1843-55. PubMed: 23390132 MGI: J:194969
Dachs E; Piedrafita L; Hereu M; Esquerda JE; Caldero J. 2013. Chronic treatment with lithium does not improve neuromuscular phenotype in a mouse model of severe spinal muscular atrophy. Neuroscience 250:417-33. PubMed: 23876328 MGI: J:207041
Dal Mas A; Rogalska ME; Bussani E; Pagani F. 2015. Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA. Am J Hum Genet 96(1):93-103. PubMed: 25557785 MGI: J:230271
Dale JM; Shen H; Barry DM; Garcia VB; Rose FF Jr; Lorson CL; Garcia ML. 2011. The spinal muscular atrophy mouse model, SMADelta7, displays altered axonal transport without global neurofilament alterations. Acta Neuropathol 122(3):331-41. PubMed: 21681521 MGI: J:176036
Dominguez E; Marais T; Chatauret N; Benkhelifa-Ziyyat S; Duque S; Ravassard P; Carcenac R; Astord S; de Moura AP; Voit T; Barkats M. 2011. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet 20(4):681-93. PubMed: 21118896 MGI: J:168716
Eshraghi M; McFall E; Gibeault S; Kothary R. 2016. Effect of genetic background on the phenotype of the Smn2B/- mouse model of spinal muscular atrophy. Hum Mol Genet :. PubMed: 27538421 MGI: J:238649
Fallini C; Donlin-Asp PG; Rouanet JP; Bassell GJ; Rossoll W. 2016. Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons. J Neurosci 36(13):3811-20. PubMed: 27030765 MGI: J:231749
Farooq F; Abadia-Molina F; Mackenzie D; Hadwen J; Shamim F; O'Reilly S; Holcik M; Mackenzie A. 2013. Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation. Hum Mol Genet 22(17):3415-24. PubMed: 23656793 MGI: J:199128
Farooq F; Molina FA; Hadwen J; MacKenzie D; Witherspoon L; Osmond M; Holcik M; MacKenzie A. 2011. Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. J Clin Invest 121(8):3042-50. PubMed: 21785216 MGI: J:176009
Feng Z; Ling KK; Zhao X; Zhou C; Karp G; Welch EM; Naryshkin N; Ratni H; Chen KS; Metzger F; Paushkin S; Weetall M; Ko CP. 2016. Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset. Hum Mol Genet 25(5):964-75. PubMed: 26758873 MGI: J:229461
Fulceri F; Bartalucci A; Paparelli S; Pasquali L; Biagioni F; Ferrucci M; Ruffoli R; Fornai F. 2012. Motor neuron pathology and behavioral alterations at late stages in a SMA mouse model. Brain Res 1442:66-75. PubMed: 22306031 MGI: J:181868
Gogliotti RG; Lutz C; Jorgensen M; Huebsch K; Koh S; Didonato CJ. 2011. Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice. Neurobiol Dis 43(1):142-51. PubMed: 21396450 MGI: J:174332
Gogliotti RG; Quinlan KA; Barlow CB; Heier CR; Heckman CJ; Didonato CJ. 2012. Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci 32(11):3818-29. PubMed: 22423102 MGI: J:183080
Gombash SE; Cowley CJ; Fitzgerald JA; Iyer CC; Fried D; McGovern VL; Williams KC; Burghes AH; Christofi FL; Gulbransen BD; Foust KD. 2015. SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice. Hum Mol Genet 24(13):3847-60. PubMed: 25859009 MGI: J:223348
Hayhurst M; Wagner AK; Cerletti M; Wagers AJ; Rubin LL. 2012. A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein. Dev Biol 368(2):323-34. PubMed: 22705478 MGI: J:186551
Heier CR; Satta R; Lutz C; DiDonato CJ. 2010. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum Mol Genet 19(20):3906-18. PubMed: 20693262 MGI: J:164446
Hunter G; Aghamaleky Sarvestany A; Roche SL; Symes RC; Gillingwater TH. 2014. SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy. Hum Mol Genet 23(9):2235-50. PubMed: 24301677 MGI: J:208449
Huo Q; Kayikci M; Odermatt P; Meyer K; Michels O; Saxena S; Ule J; Schumperli D. 2014. Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins. RNA Biol 11(11):1430-46. PubMed: 25692239 MGI: J:231140
Iyer CC; McGovern VL; Murray JD; Gombash SE; Zaworski PG; Foust KD; Janssen PM; Burghes AH. 2015. Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNDelta7 mouse model of SMA. Hum Mol Genet 24(21):6160-73. PubMed: 26276812 MGI: J:226174
Jablonka S; Beck M; Lechner BD; Mayer C; Sendtner M. 2007. Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy. J Cell Biol 179(1):139-49. PubMed: 17923533 MGI: J:134807
Jablonka S; Karle K; Sandner B; Andreassi C; von Au K; Sendtner M. 2006. Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy. Hum Mol Genet 15(3):511-8. PubMed: 16396995 MGI: J:105422
Kariya S; Obis T; Garone C; Akay T; Sera F; Iwata S; Homma S; Monani UR. 2014. Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. J Clin Invest 124(2):785-800. PubMed: 24463453 MGI: J:208442
Kariya S; Park GH; Maeno-Hikichi Y; Leykekhman O; Lutz C; Arkovitz MS; Landmesser LT; Monani UR. 2008. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 17(16):2552-69. PubMed: 18492800 MGI: J:138437
Khairallah MT; Astroski J; Custer SK; Androphy EJ; Franklin CL; Lorson CL. 2017. SMN deficiency negatively impacts red pulp macrophages and spleen development in mouse models of spinal muscular atrophy. Hum Mol Genet 26(5):932-941. PubMed: 28062667 MGI: J:241426
Kong L; Wang X; Choe DW; Polley M; Burnett BG; Bosch-Marce M; Griffin JW; Rich MM; Sumner CJ. 2009. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 29(3):842-51. PubMed: 19158308 MGI: J:144843
Kye MJ; Niederst ED; Wertz MH; Goncalves Ido C; Akten B; Dover KZ; Peters M; Riessland M; Neveu P; Wirth B; Kosik KS; Sardi SP; Monani UR; Passini MA; Sahin M. 2014. SMN regulates axonal local translation via miR-183/mTOR pathway. Hum Mol Genet 23(23):6318-31. PubMed: 25055867 MGI: J:215597
Le TT; Pham LT; Butchbach ME; Zhang HL; Monani UR; Coovert DD; Gavrilina TO; Xing L; Bassell GJ; Burghes AH. 2005. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 14(6):845-57. PubMed: 15703193 MGI: J:97103
Lee AJ; Awano T; Park GH; Monani UR. 2012. Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy. PLoS One 7(9):e46353. PubMed: 23029491 MGI: J:191961
Lee YI; Mikesh M; Smith I; Rimer M; Thompson W. 2011. Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons. Dev Biol 356(2):432-44. PubMed: 21658376 MGI: J:175468
Ling KK; Gibbs RM; Feng Z; Ko CP. 2012. Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum Mol Genet 21(1):185-95. PubMed: 21968514 MGI: J:178856
Ling KK; Lin MY; Zingg B; Feng Z; Ko CP. 2010. Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy. PLoS One 5(11):e15457. PubMed: 21085654 MGI: J:166818
Lotti F; Imlach WL; Saieva L; Beck ES; Hao le T; Li DK; Jiao W; Mentis GZ; Beattie CE; McCabe BD; Pellizzoni L. 2012. An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function. Cell 151(2):440-54. PubMed: 23063131 MGI: J:189067
Luchetti A; Ciafre SA; Murdocca M; Malgieri A; Masotti A; Sanchez M; Farace MG; Novelli G; Sangiuolo F. 2015. A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA). Int J Mol Sci 16(8):18312-27. PubMed: 26258776 MGI: J:238913
Lutz CM; Kariya S; Patruni S; Osborne MA; Liu D; Henderson CE; Li DK; Pellizzoni L; Rojas J; Valenzuela DM; Murphy AJ; Winberg ML; Monani UR. 2011. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest 121(8):3029-41. PubMed: 21785219 MGI: J:176007
McGivern JV; Patitucci TN; Nord JA; Barabas ME; Stucky CL; Ebert AD. 2013. Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production. Glia 61(9):1418-28. PubMed: 23839956 MGI: J:199444
McGovern VL; Gavrilina TO; Beattie CE; Burghes AH. 2008. Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet 17(18):2900-9. PubMed: 18603534 MGI: J:138317
McGovern VL; Massoni-Laporte A; Wang X; Le TT; Le HT; Beattie CE; Rich MM; Burghes AH. 2015. Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the 7 SMA Mouse. PLoS One 10(7):e0132364. PubMed: 26134627 MGI: J:238311
Meyer K; Marquis J; Trub J; Nlend Nlend R; Verp S; Ruepp MD; Imboden H; Barde I; Trono D; Schumperli D. 2009. Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Hum Mol Genet 18(3):546-55. PubMed: 19010792 MGI: J:143540
Miller N; Feng Z; Edens BM; Yang B; Shi H; Sze CC; Hong BT; Su SC; Cantu JA; Topczewski J; Crawford TO; Ko CP; Sumner CJ; Ma L; Ma YC. 2015. Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy. J Neurosci 35(15):6038-50. PubMed: 25878277 MGI: J:221676
Miller N; Shi H; Zelikovich AS; Ma YC. 2016. Motor neuron mitochondrial dysfunction in spinal muscular atrophy. Hum Mol Genet 25(16):3395-3406. PubMed: 27488123 MGI: J:237935
Monani UR; Pastore MT; Gavrilina TO; Jablonka S; Le TT; Andreassi C; DiCocco JM; Lorson C; Androphy EJ; Sendtner M; Podell M; Burghes AH. 2003. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol 160(1):41-52. PubMed: 12515823 MGI: J:81238
Monani UR; Sendtner M; Coovert DD; Parsons DW; Andreassi C; Le TT; Jablonka S; Schrank B; Rossol W; Prior TW; Morris GE; Burghes AH. 2000. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 9(3):333-9. PubMed: 10655541 MGI: J:60592
Murray LM; Comley LH; Thomson D; Parkinson N; Talbot K; Gillingwater TH. 2008. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 17(7):949-62. PubMed: 18065780 MGI: J:132467
Murray LM; Lee S; Baumer D; Parson SH; Talbot K; Gillingwater TH. 2009. Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Hum Mol Genet :. PubMed: 19884170 MGI: J:155336
Mutsaers CA; Wishart TM; Lamont DJ; Riessland M; Schreml J; Comley LH; Murray LM; Parson SH; Lochmuller H; Wirth B; Talbot K; Gillingwater TH. 2011. Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum Mol Genet 20(22):4334-44. PubMed: 21840928 MGI: J:176892
Neve A; Trub J; Saxena S; Schumperli D. 2016. Central and peripheral defects in motor units of the diaphragm of spinal muscular atrophy mice. Mol Cell Neurosci 70:30-41. PubMed: 26621405 MGI: J:231139
Nolle A; Zeug A; van Bergeijk J; Tonges L; Gerhard R; Brinkmann H; Al Rayes S; Hensel N; Schill Y; Apkhazava D; Jablonka S; O Fmer J; Kumar Srivastav R; Baasner A; Lingor P; Wirth B; Ponimaskin E; Niedenthal R; Grothe C; Claus P. 2011. The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin. Hum Mol Genet :. PubMed: 21920940 MGI: J:177764
Novoyatleva T; Heinrich B; Tang Y; Benderska N; Butchbach ME; Lorson CL; Lorson MA; Ben-Dov C; Fehlbaum P; Bracco L; Burghes AH; Bollen M; Stamm S. 2008. Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet 17(1):52-70. PubMed: 17913700 MGI: J:130114
Osman EY; Miller MR; Robbins KL; Lombardi AM; Atkinson AK; Brehm AJ; Lorson CL. 2014. Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models. Hum Mol Genet 23(18):4832-45. PubMed: 24781211 MGI: J:213594
Paez-Colasante X; Seaberg B; Martinez TL; Kong L; Sumner CJ; Rimer M. 2013. Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. PLoS One 8(9):e75866. PubMed: 24086650 MGI: J:206015
Pagliarini V; Pelosi L; Bustamante MB; Nobili A; Berardinelli MG; D'Amelio M; Musaro A; Sette C. 2015. SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy. J Cell Biol 211(1):77-90. PubMed: 26438828 MGI: J:227647
Park GH; Maeno-Hikichi Y; Awano T; Landmesser LT; Monani UR. 2010. Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J Neurosci 30(36):12005-19. PubMed: 20826664 MGI: J:164292
Porensky PN; Mitrpant C; McGovern VL; Bevan AK; Foust KD; Kaspar BK; Wilton SD; Burghes AH. 2012. A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet 21(7):1625-38. PubMed: 22186025 MGI: J:181560
Riessland M; Ackermann B; Forster A; Jakubik M; Hauke J; Garbes L; Fritzsche I; Mende Y; Blumcke I; Hahnen E; Wirth B. 2010. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet 19(8):1492-506. PubMed: 20097677 MGI: J:158347
Robbins KL; Glascock JJ; Osman EY; Miller MR; Lorson CL. 2014. Defining the therapeutic window in a severe animal model of spinal muscular atrophy. Hum Mol Genet 23(17):4559-68. PubMed: 24722206 MGI: J:213616
Rose FF Jr; Mattis VB; Rindt H; Lorson CL. 2009. Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy. Hum Mol Genet 18(6):997-1005. PubMed: 19074460 MGI: J:145746
Rossoll W; Jablonka S; Andreassi C; Kroning AK; Karle K; Monani UR; Sendtner M. 2003. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 163(4):801-12. PubMed: 14623865 MGI: J:86712
Ruggiu M; McGovern VL; Lotti F; Saieva L; Li DK; Kariya S; Monani UR; Burghes AH; Pellizzoni L. 2012. A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol 32(1):126-38. PubMed: 22037760 MGI: J:183557
Ruiz R; Casanas JJ; Torres-Benito L; Cano R; Tabares L. 2010. Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. J Neurosci 30(3):849-57. PubMed: 20089893 MGI: J:157700
Sanchez G; Dury AY; Murray LM; Biondi O; Tadesse H; El Fatimy R; Kothary R; Charbonnier F; Khandjian EW; Cote J. 2013. A novel function for the survival motoneuron protein as a translational regulator. Hum Mol Genet 22(4):668-84. PubMed: 23136128 MGI: J:191211
See K; Yadav P; Giegerich M; Cheong PS; Graf M; Vyas H; Lee SG; Mathavan S; Fischer U; Sendtner M; Winkler C. 2014. SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy. Hum Mol Genet 23(7):1754-70. PubMed: 24218366 MGI: J:207140
Shababi M; Habibi J; Yang HT; Vale SM; Sewell WA; Lorson CL. 2010. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet 19(20):4059-71. PubMed: 20696672 MGI: J:164444
Sleigh JN; Gillingwater TH; Talbot K. 2011. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech 4(4):457-67. PubMed: 21708901 MGI: J:175452
Subramanian N; Wetzel A; Dombert B; Yadav P; Havlicek S; Jablonka S; Nassar MA; Blum R; Sendtner M. 2012. Role of Nav1.9 in activity-dependent axon growth in motoneurons. Hum Mol Genet 21(16):3655-67. PubMed: 22641814 MGI: J:185985
Sumner CJ; Wee CD; Warsing LC; Choe DW; Ng AS; Lutz C; Wagner KR. 2009. Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Hum Mol Genet 18(17):3145-52. PubMed: 19477958 MGI: J:151438
Taylor AS; Glascock JJ; Rose FF Jr; Lutz C; Lorson CL. 2013. Restoration of SMN to Emx-1 expressing cortical neurons is not sufficient to provide benefit to a severe mouse model of Spinal Muscular Atrophy. Transgenic Res 22(5):1029-36. PubMed: 23512182 MGI: J:213313
Tejero R; Lopez-Manzaneda M; Arumugam S; Tabares L. 2016. Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy. Hum Mol Genet :. PubMed: 27577871 MGI: J:238645
Thomson SR; Nahon JE; Mutsaers CA; Thomson D; Hamilton G; Parson SH; Gillingwater TH. 2012. Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy. PLoS One 7(12):e52605. PubMed: 23285108 MGI: J:195758
Tisdale S; Lotti F; Saieva L; Van Meerbeke JP; Crawford TO; Sumner CJ; Mentis GZ; Pellizzoni L. 2013. SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3'-End Formation of Histone mRNAs. Cell Rep 5(5):1187-95. PubMed: 24332368 MGI: J:204134
Torres-Benito L; Neher MF; Cano R; Ruiz R; Tabares L. 2011. SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals. PLoS One 6(10):e26164. PubMed: 22022549 MGI: J:179582
Turner BJ; Parkinson NJ; Davies KE; Talbot K. 2009. Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis 34(3):511-7. PubMed: 19332122 MGI: J:150474
Valsecchi V; Boido M; De Amicis E; Piras A; Vercelli A. 2015. Expression of Muscle-Specific MiRNA 206 in the Progression of Disease in a Murine SMA Model. PLoS One 10(6):e0128560. PubMed: 26030275 MGI: J:237725
Van Meerbeke JP; Gibbs RM; Plasterer HL; Miao W; Feng Z; Lin MY; Rucki AA; Wee CD; Xia B; Sharma S; Jacques V; Li DK; Pellizzoni L; Rusche JR; Ko CP; Sumner CJ. 2013. The DcpS inhibitor RG3039 improves motor function in SMA mice. Hum Mol Genet 22(20):4074-83. PubMed: 23727836 MGI: J:201100
Voigt T; Meyer K; Baum O; Schumperli D. 2010. Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing. Neuromuscul Disord 20(11):744-52. PubMed: 20832308 MGI: J:231141
Walker MP; Rajendra TK; Saieva L; Fuentes JL; Pellizzoni L; Matera AG. 2008. SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum Mol Genet 17(21):3399-410. PubMed: 18689355 MGI: J:140332
Wishart TM; Huang JP; Murray LM; Lamont DJ; Mutsaers CA; Ross J; Geldsetzer P; Ansorge O; Talbot K; Parson SH; Gillingwater TH. 2010. SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. Hum Mol Genet 19(21):4216-28. PubMed: 20705736 MGI: J:164890
Wishart TM; Mutsaers CA; Riessland M; Reimer MM; Hunter G; Hannam ML; Eaton SL; Fuller HR; Roche SL; Somers E; Morse R; Young PJ; Lamont DJ; Hammerschmidt M; Joshi A; Hohenstein P; Morris GE; Parson SH; Skehel PA; Becker T; Robinson IM; Becker CG; Wirth B; Gillingwater TH. 2014. Dysregulation of ubiquitin homeostasis and beta-catenin signaling promote spinal muscular atrophy. J Clin Invest 124(4):1821-34. PubMed: 24590288 MGI: J:209625
Workman E; Saieva L; Carrel TL; Crawford TO; Liu D; Lutz C; Beattie CE; Pellizzoni L; Burghes AH. 2009. A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet 18(12):2215-29. PubMed: 19329542 MGI: J:148541
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d'Errico P; Boido M; Piras A; Valsecchi V; De Amicis E; Locatelli D; Capra S; Vagni F; Vercelli A; Battaglia G. 2013. Selective vulnerability of spinal and cortical motor neuron subpopulations in delta7 SMA mice. PLoS One 8(12):e82654. PubMed: 24324819 MGI: J:209739

Additional - Smn1^tm1Msd related

Ahmad S; Wang Y; Shaik GM; Burghes AH; Gangwani L. 2012. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. Hum Mol Genet 21(12):2745-58. PubMed: 22422766 MGI: J:184463
Balasubramaniam V; Ryan SL; Seedorf GJ; Roth EV; Heumann TR; Yoder MC; Ingram DA; Hogan CJ; Markham NE; Abman SH. 2010. Bone marrow-derived angiogenic cells restore lung alveolar and vascular structure after neonatal hyperoxia in infant mice. Am J Physiol Lung Cell Mol Physiol 298(3):L315-23. PubMed: 20008116 MGI: J:157669
Baumer D; Lee S; Nicholson G; Davies JL; Parkinson NJ; Murray LM; Gillingwater TH; Ansorge O; Davies KE; Talbot K. 2009. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet 5(12):e1000773. PubMed: 20019802 MGI: J:161744
Bebee TW; Dominguez CE; Samadzadeh-Tarighat S; Akehurst KL; Chandler DS. 2012. Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model. Hum Mol Genet 21(19):4301-13. PubMed: 22763238 MGI: J:187404
Bevan AK; Hutchinson KR; Foust KD; Braun L; McGovern VL; Schmelzer L; Ward JG; Petruska JC; Lucchesi PA; Burghes AH; Kaspar BK. 2010. Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet 19(20):3895-905. PubMed: 20639395 MGI: J:164456
Bogdanik LP; Osborne MA; Davis C; Martin WP; Austin A; Rigo F; Bennett CF; Lutz CM. 2015. Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy. Proc Natl Acad Sci U S A 112(43):E5863-72. PubMed: 26460027 MGI: J:227184
Bordet T. 2009. Generation of an SMN2 transgene (line 11) MGI Direct Data Submission :. MGI: J:144852
Bordet T. 2009. Generation of an SMN2 transgene (line 46) MGI Direct Data Submission :. MGI: J:144853
Bosch-Marce M; Wee CD; Martinez TL; Lipkes CE; Choe DW; Kong L; Van Meerbeke JP; Musaro A; Sumner CJ. 2011. Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet 20(9):1844-53. PubMed: 21325354 MGI: J:170476
Bowerman M; Anderson CL; Beauvais A; Boyl PP; Witke W; Kothary R. 2009. SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. Mol Cell Neurosci 42(1):66-74. PubMed: 19497369 MGI: J:154248
Bowerman M; Beauvais A; Anderson CL; Kothary R. 2010. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 19(8):1468-78. PubMed: 20097679 MGI: J:158345
Bowerman M; Michalski JP; Beauvais A; Murray LM; DeRepentigny Y; Kothary R. 2014. Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology. Hum Mol Genet 23(13):3432-44. PubMed: 24497575 MGI: J:210674
Boyer JG; Deguise MO; Murray LM; Yazdani A; De Repentigny Y; Boudreau-Lariviere C; Kothary R. 2014. Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy. Hum Mol Genet 23(16):4249-59. PubMed: 24691550 MGI: J:213423
Boyer JG; Murray LM; Scott K; De Repentigny Y; Renaud JM; Kothary R. 2013. Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy. Skelet Muscle 3(1):24. PubMed: 24119341 MGI: J:202752
Bricceno KV; Martinez T; Leikina E; Duguez S; Partridge TA; Chernomordik LV; Fischbeck KH; Sumner CJ; Burnett BG. 2014. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Hum Mol Genet 23(18):4745-57. PubMed: 24760765 MGI: J:213599
Butchbach ME; Edwards JD; Burghes AH. 2007. Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis 27(2):207-19. PubMed: 17561409 MGI: J:134824
Butchbach ME; Rose FF Jr; Rhoades S; Marston J; McCrone JT; Sinnott R; Lorson CL. 2010. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun 391(1):835-40. PubMed: 19945425 MGI: J:156779
Cobb MS; Rose FF; Rindt H; Glascock JJ; Shababi M; Miller MR; Osman EY; Yen PF; Garcia ML; Martin BR; Wetz MJ; Mazzasette C; Feng Z; Ko CP; Lorson CL. 2013. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Hum Mol Genet 22(9):1843-55. PubMed: 23390132 MGI: J:194969
Comley LH; Nijssen J; Frost-Nylen J; Hedlund E. 2016. Cross-disease comparison of amyotrophic lateral sclerosis and spinal muscular atrophy reveals conservation of selective vulnerability but differential neuromuscular junction pathology. J Comp Neurol 524(7):1424-42. PubMed: 26502195 MGI: J:231487
Dachs E; Piedrafita L; Hereu M; Esquerda JE; Caldero J. 2013. Chronic treatment with lithium does not improve neuromuscular phenotype in a mouse model of severe spinal muscular atrophy. Neuroscience 250:417-33. PubMed: 23876328 MGI: J:207041
Dal Mas A; Rogalska ME; Bussani E; Pagani F. 2015. Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA. Am J Hum Genet 96(1):93-103. PubMed: 25557785 MGI: J:230271
Dale JM; Shen H; Barry DM; Garcia VB; Rose FF Jr; Lorson CL; Garcia ML. 2011. The spinal muscular atrophy mouse model, SMADelta7, displays altered axonal transport without global neurofilament alterations. Acta Neuropathol 122(3):331-41. PubMed: 21681521 MGI: J:176036
Deguise MO; De Repentigny Y; McFall E; Auclair N; Sad S; Kothary R. 2017. Immune dysregulation may contribute to disease pathogenesis in spinal muscular atrophy mice. Hum Mol Genet 26(4):801-819. PubMed: 28108555 MGI: J:241662
Dombert B; Sivadasan R; Simon CM; Jablonka S; Sendtner M. 2014. Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons. PLoS One 9(10):e110846. PubMed: 25338097 MGI: J:222448
Dominguez E; Marais T; Chatauret N; Benkhelifa-Ziyyat S; Duque S; Ravassard P; Carcenac R; Astord S; de Moura AP; Voit T; Barkats M. 2011. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet 20(4):681-93. PubMed: 21118896 MGI: J:168716
El-Khodor BF; Edgar N; Chen A; Winberg ML; Joyce C; Brunner D; Suarez-Farinas M; Heyes MP. 2008. Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy. Exp Neurol 212(1):29-43. PubMed: 18455159 MGI: J:137949
Eshraghi M; McFall E; Gibeault S; Kothary R. 2016. Effect of genetic background on the phenotype of the Smn2B/- mouse model of spinal muscular atrophy. Hum Mol Genet :. PubMed: 27538421 MGI: J:238649
Fallini C; Donlin-Asp PG; Rouanet JP; Bassell GJ; Rossoll W. 2016. Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons. J Neurosci 36(13):3811-20. PubMed: 27030765 MGI: J:231749
Fallini C; Rouanet JP; Donlin-Asp PG; Guo P; Zhang H; Singer RH; Rossoll W; Bassell GJ. 2014. Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA-binding protein IMP1 facilitates its trafficking into motor neuron axons. Dev Neurobiol 74(3):319-32. PubMed: 23897586 MGI: J:238830
Farooq F; Abadia-Molina F; Mackenzie D; Hadwen J; Shamim F; O'Reilly S; Holcik M; Mackenzie A. 2013. Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation. Hum Mol Genet 22(17):3415-24. PubMed: 23656793 MGI: J:199128
Farooq F; Molina FA; Hadwen J; MacKenzie D; Witherspoon L; Osmond M; Holcik M; MacKenzie A. 2011. Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. J Clin Invest 121(8):3042-50. PubMed: 21785216 MGI: J:176009
Feng Z; Ling KK; Zhao X; Zhou C; Karp G; Welch EM; Naryshkin N; Ratni H; Chen KS; Metzger F; Paushkin S; Weetall M; Ko CP. 2016. Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset. Hum Mol Genet 25(5):964-75. PubMed: 26758873 MGI: J:229461
Fulceri F; Bartalucci A; Paparelli S; Pasquali L; Biagioni F; Ferrucci M; Ruffoli R; Fornai F. 2012. Motor neuron pathology and behavioral alterations at late stages in a SMA mouse model. Brain Res 1442:66-75. PubMed: 22306031 MGI: J:181868
Genabai NK; Ahmad S; Zhang Z; Jiang X; Gabaldon CA; Gangwani L. 2015. Genetic inhibition of JNK3 ameliorates spinal muscular atrophy. Hum Mol Genet 24(24):6986-7004. PubMed: 26423457 MGI: J:226840
Gladman JT; Bebee TW; Edwards C; Wang X; Sahenk Z; Rich MM; Chandler DS. 2010. A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. Hum Mol Genet 19(21):4239-52. PubMed: 20705738 MGI: J:164889
Gogliotti RG; Cardona H; Singh J; Bail S; Emery C; Kuntz N; Jorgensen M; Durens M; Xia B; Barlow C; Heier CR; Plasterer HL; Jacques V; Kiledjian M; Jarecki J; Rusche J; Didonato CJ. 2013. The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models. Hum Mol Genet 22(20):4084-101. PubMed: 23736298 MGI: J:201094
Gogliotti RG; Lutz C; Jorgensen M; Huebsch K; Koh S; Didonato CJ. 2011. Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice. Neurobiol Dis 43(1):142-51. PubMed: 21396450 MGI: J:174332
Gogliotti RG; Quinlan KA; Barlow CB; Heier CR; Heckman CJ; Didonato CJ. 2012. Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci 32(11):3818-29. PubMed: 22423102 MGI: J:183080
Gombash SE; Cowley CJ; Fitzgerald JA; Iyer CC; Fried D; McGovern VL; Williams KC; Burghes AH; Christofi FL; Gulbransen BD; Foust KD. 2015. SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice. Hum Mol Genet 24(13):3847-60. PubMed: 25859009 MGI: J:223348
Hayhurst M; Wagner AK; Cerletti M; Wagers AJ; Rubin LL. 2012. A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein. Dev Biol 368(2):323-34. PubMed: 22705478 MGI: J:186551
Heier CR; Satta R; Lutz C; DiDonato CJ. 2010. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum Mol Genet 19(20):3906-18. PubMed: 20693262 MGI: J:164446
Hunter G; Aghamaleky Sarvestany A; Roche SL; Symes RC; Gillingwater TH. 2014. SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy. Hum Mol Genet 23(9):2235-50. PubMed: 24301677 MGI: J:208449
Huo Q; Kayikci M; Odermatt P; Meyer K; Michels O; Saxena S; Ule J; Schumperli D. 2014. Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins. RNA Biol 11(11):1430-46. PubMed: 25692239 MGI: J:231140
Iyer CC; McGovern VL; Murray JD; Gombash SE; Zaworski PG; Foust KD; Janssen PM; Burghes AH. 2015. Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNDelta7 mouse model of SMA. Hum Mol Genet 24(21):6160-73. PubMed: 26276812 MGI: J:226174
Jablonka S; Beck M; Lechner BD; Mayer C; Sendtner M. 2007. Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy. J Cell Biol 179(1):139-49. PubMed: 17923533 MGI: J:134807
Jablonka S; Holtmann B; Meister G; Bandilla M; Rossoll W; Fischer U; Sendtner M. 2002. Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death. Proc Natl Acad Sci U S A 99(15):10126-31. PubMed: 12091709 MGI: J:81784
Jablonka S; Karle K; Sandner B; Andreassi C; von Au K; Sendtner M. 2006. Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy. Hum Mol Genet 15(3):511-8. PubMed: 16396995 MGI: J:105422
Jablonka S; Schrank B; Kralewski M; Rossoll W; Sendtner M. 2000. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. Hum Mol Genet 9(3):341-6. PubMed: 10655542 MGI: J:60591
Kariya S; Obis T; Garone C; Akay T; Sera F; Iwata S; Homma S; Monani UR. 2014. Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. J Clin Invest 124(2):785-800. PubMed: 24463453 MGI: J:208442
Kariya S; Park GH; Maeno-Hikichi Y; Leykekhman O; Lutz C; Arkovitz MS; Landmesser LT; Monani UR. 2008. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 17(16):2552-69. PubMed: 18492800 MGI: J:138437
Kariya S; Re DB; Jacquier A; Nelson K; Przedborski S; Monani UR. 2012. Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies. Hum Mol Genet 21(15):3421-34. PubMed: 22581780 MGI: J:185362
Khairallah MT; Astroski J; Custer SK; Androphy EJ; Franklin CL; Lorson CL. 2017. SMN deficiency negatively impacts red pulp macrophages and spleen development in mouse models of spinal muscular atrophy. Hum Mol Genet 26(5):932-941. PubMed: 28062667 MGI: J:241426
Kong L; Wang X; Choe DW; Polley M; Burnett BG; Bosch-Marce M; Griffin JW; Rich MM; Sumner CJ. 2009. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 29(3):842-51. PubMed: 19158308 MGI: J:144843
Kwon DY; Motley WW; Fischbeck KH; Burnett BG. 2011. Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Hum Mol Genet 20(18):3667-77. PubMed: 21693563 MGI: J:174791
Kye MJ; Niederst ED; Wertz MH; Goncalves Ido C; Akten B; Dover KZ; Peters M; Riessland M; Neveu P; Wirth B; Kosik KS; Sardi SP; Monani UR; Passini MA; Sahin M. 2014. SMN regulates axonal local translation via miR-183/mTOR pathway. Hum Mol Genet 23(23):6318-31. PubMed: 25055867 MGI: J:215597
Le TT; McGovern VL; Alwine IE; Wang X; Massoni-Laporte A; Rich MM; Burghes AH. 2011. Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet 20(18):3578-91. PubMed: 21672919 MGI: J:174960
Le TT; Pham LT; Butchbach ME; Zhang HL; Monani UR; Coovert DD; Gavrilina TO; Xing L; Bassell GJ; Burghes AH. 2005. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 14(6):845-57. PubMed: 15703193 MGI: J:97103
Lee YI; Mikesh M; Smith I; Rimer M; Thompson W. 2011. Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons. Dev Biol 356(2):432-44. PubMed: 21658376 MGI: J:175468
Ling KK; Gibbs RM; Feng Z; Ko CP. 2012. Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum Mol Genet 21(1):185-95. PubMed: 21968514 MGI: J:178856
Ling KK; Lin MY; Zingg B; Feng Z; Ko CP. 2010. Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy. PLoS One 5(11):e15457. PubMed: 21085654 MGI: J:166818
Lotti F; Imlach WL; Saieva L; Beck ES; Hao le T; Li DK; Jiao W; Mentis GZ; Beattie CE; McCabe BD; Pellizzoni L. 2012. An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function. Cell 151(2):440-54. PubMed: 23063131 MGI: J:189067
Luchetti A; Ciafre SA; Murdocca M; Malgieri A; Masotti A; Sanchez M; Farace MG; Novelli G; Sangiuolo F. 2015. A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA). Int J Mol Sci 16(8):18312-27. PubMed: 26258776 MGI: J:238913
Lutz CM; Kariya S; Patruni S; Osborne MA; Liu D; Henderson CE; Li DK; Pellizzoni L; Rojas J; Valenzuela DM; Murphy AJ; Winberg ML; Monani UR. 2011. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest 121(8):3029-41. PubMed: 21785219 MGI: J:176007
McGivern JV; Patitucci TN; Nord JA; Barabas ME; Stucky CL; Ebert AD. 2013. Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production. Glia 61(9):1418-28. PubMed: 23839956 MGI: J:199444
McGovern VL; Gavrilina TO; Beattie CE; Burghes AH. 2008. Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet 17(18):2900-9. PubMed: 18603534 MGI: J:138317
McGovern VL; Massoni-Laporte A; Wang X; Le TT; Le HT; Beattie CE; Rich MM; Burghes AH. 2015. Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the 7 SMA Mouse. PLoS One 10(7):e0132364. PubMed: 26134627 MGI: J:238311
Meyer K; Marquis J; Trub J; Nlend Nlend R; Verp S; Ruepp MD; Imboden H; Barde I; Trono D; Schumperli D. 2009. Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Hum Mol Genet 18(3):546-55. PubMed: 19010792 MGI: J:143540
Michaud M; Arnoux T; Bielli S; Durand E; Rotrou Y; Jablonka S; Robert F; Giraudon-Paoli M; Riessland M; Mattei MG; Andriambeloson E; Wirth B; Sendtner M; Gallego J; Pruss RM; Bordet T. 2010. Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol Dis 38(1):125-35. PubMed: 20085811 MGI: J:159930
Miller N; Feng Z; Edens BM; Yang B; Shi H; Sze CC; Hong BT; Su SC; Cantu JA; Topczewski J; Crawford TO; Ko CP; Sumner CJ; Ma L; Ma YC. 2015. Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy. J Neurosci 35(15):6038-50. PubMed: 25878277 MGI: J:221676
Miller N; Shi H; Zelikovich AS; Ma YC. 2016. Motor neuron mitochondrial dysfunction in spinal muscular atrophy. Hum Mol Genet 25(16):3395-3406. PubMed: 27488123 MGI: J:237935
Monani UR; Pastore MT; Gavrilina TO; Jablonka S; Le TT; Andreassi C; DiCocco JM; Lorson C; Androphy EJ; Sendtner M; Podell M; Burghes AH. 2003. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol 160(1):41-52. PubMed: 12515823 MGI: J:81238
Monani UR; Sendtner M; Coovert DD; Parsons DW; Andreassi C; Le TT; Jablonka S; Schrank B; Rossol W; Prior TW; Morris GE; Burghes AH. 2000. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 9(3):333-9. PubMed: 10655541 MGI: J:60592
Murray LM; Comley LH; Thomson D; Parkinson N; Talbot K; Gillingwater TH. 2008. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 17(7):949-62. PubMed: 18065780 MGI: J:132467
Murray LM; Lee S; Baumer D; Parson SH; Talbot K; Gillingwater TH. 2009. Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Hum Mol Genet :. PubMed: 19884170 MGI: J:155336
Mutsaers CA; Wishart TM; Lamont DJ; Riessland M; Schreml J; Comley LH; Murray LM; Parson SH; Lochmuller H; Wirth B; Talbot K; Gillingwater TH. 2011. Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum Mol Genet 20(22):4334-44. PubMed: 21840928 MGI: J:176892
Neve A; Trub J; Saxena S; Schumperli D. 2016. Central and peripheral defects in motor units of the diaphragm of spinal muscular atrophy mice. Mol Cell Neurosci 70:30-41. PubMed: 26621405 MGI: J:231139
Nolle A; Zeug A; van Bergeijk J; Tonges L; Gerhard R; Brinkmann H; Al Rayes S; Hensel N; Schill Y; Apkhazava D; Jablonka S; O Fmer J; Kumar Srivastav R; Baasner A; Lingor P; Wirth B; Ponimaskin E; Niedenthal R; Grothe C; Claus P. 2011. The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin. Hum Mol Genet :. PubMed: 21920940 MGI: J:177764
Novoyatleva T; Heinrich B; Tang Y; Benderska N; Butchbach ME; Lorson CL; Lorson MA; Ben-Dov C; Fehlbaum P; Bracco L; Burghes AH; Bollen M; Stamm S. 2008. Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet 17(1):52-70. PubMed: 17913700 MGI: J:130114
Osman EY; Miller MR; Robbins KL; Lombardi AM; Atkinson AK; Brehm AJ; Lorson CL. 2014. Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models. Hum Mol Genet 23(18):4832-45. PubMed: 24781211 MGI: J:213594
Paez-Colasante X; Seaberg B; Martinez TL; Kong L; Sumner CJ; Rimer M. 2013. Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. PLoS One 8(9):e75866. PubMed: 24086650 MGI: J:206015
Pagliarini V; Pelosi L; Bustamante MB; Nobili A; Berardinelli MG; D'Amelio M; Musaro A; Sette C. 2015. SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy. J Cell Biol 211(1):77-90. PubMed: 26438828 MGI: J:227647
Park GH; Maeno-Hikichi Y; Awano T; Landmesser LT; Monani UR. 2010. Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J Neurosci 30(36):12005-19. PubMed: 20826664 MGI: J:164292
Porensky PN; Mitrpant C; McGovern VL; Bevan AK; Foust KD; Kaspar BK; Wilton SD; Burghes AH. 2012. A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet 21(7):1625-38. PubMed: 22186025 MGI: J:181560
Riessland M; Ackermann B; Forster A; Jakubik M; Hauke J; Garbes L; Fritzsche I; Mende Y; Blumcke I; Hahnen E; Wirth B. 2010. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet 19(8):1492-506. PubMed: 20097677 MGI: J:158347
Rindt H; Feng Z; Mazzasette C; Glascock JJ; Valdivia D; Pyles N; Crawford TO; Swoboda KJ; Patitucci TN; Ebert AD; Sumner CJ; Ko CP; Lorson CL. 2015. Astrocytes influence the severity of spinal muscular atrophy. Hum Mol Genet 24(14):4094-102. PubMed: 25911676 MGI: J:223810
Robbins KL; Glascock JJ; Osman EY; Miller MR; Lorson CL. 2014. Defining the therapeutic window in a severe animal model of spinal muscular atrophy. Hum Mol Genet 23(17):4559-68. PubMed: 24722206 MGI: J:213616
Rose FF Jr; Mattis VB; Rindt H; Lorson CL. 2009. Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy. Hum Mol Genet 18(6):997-1005. PubMed: 19074460 MGI: J:145746
Rose FF Jr; Meehan PW; Coady TH; Garcia VB; Garcia ML; Lorson CL. 2008. The Wallerian degeneration slow (Wld(s)) gene does not attenuate disease in a mouse model of spinal muscular atrophy. Biochem Biophys Res Commun 375(1):119-23. PubMed: 18680723 MGI: J:140130
Rossoll W; Jablonka S; Andreassi C; Kroning AK; Karle K; Monani UR; Sendtner M. 2003. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 163(4):801-12. PubMed: 14623865 MGI: J:86712
Ruggiu M; McGovern VL; Lotti F; Saieva L; Li DK; Kariya S; Monani UR; Burghes AH; Pellizzoni L. 2012. A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol 32(1):126-38. PubMed: 22037760 MGI: J:183557
Ruiz R; Casanas JJ; Torres-Benito L; Cano R; Tabares L. 2010. Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. J Neurosci 30(3):849-57. PubMed: 20089893 MGI: J:157700
Schrank B; Gotz R; Gunnersen JM; Ure JM; Toyka KV; Smith AG ; Sendtner M. 1997. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A 94(18):9920-5. PubMed: 9275227 MGI: J:42813
See K; Yadav P; Giegerich M; Cheong PS; Graf M; Vyas H; Lee SG; Mathavan S; Fischer U; Sendtner M; Winkler C. 2014. SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy. Hum Mol Genet 23(7):1754-70. PubMed: 24218366 MGI: J:207140
Shababi M; Habibi J; Yang HT; Vale SM; Sewell WA; Lorson CL. 2010. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet 19(20):4059-71. PubMed: 20696672 MGI: J:164444
Sleigh JN; Gillingwater TH; Talbot K. 2011. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech 4(4):457-67. PubMed: 21708901 MGI: J:175452
Subramanian N; Wetzel A; Dombert B; Yadav P; Havlicek S; Jablonka S; Nassar MA; Blum R; Sendtner M. 2012. Role of Nav1.9 in activity-dependent axon growth in motoneurons. Hum Mol Genet 21(16):3655-67. PubMed: 22641814 MGI: J:185985
Sumner CJ; Wee CD; Warsing LC; Choe DW; Ng AS; Lutz C; Wagner KR. 2009. Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Hum Mol Genet 18(17):3145-52. PubMed: 19477958 MGI: J:151438
Tejero R; Lopez-Manzaneda M; Arumugam S; Tabares L. 2016. Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy. Hum Mol Genet :. PubMed: 27577871 MGI: J:238645
Thomson SR; Nahon JE; Mutsaers CA; Thomson D; Hamilton G; Parson SH; Gillingwater TH. 2012. Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy. PLoS One 7(12):e52605. PubMed: 23285108 MGI: J:195758
Tisdale S; Lotti F; Saieva L; Van Meerbeke JP; Crawford TO; Sumner CJ; Mentis GZ; Pellizzoni L. 2013. SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3'-End Formation of Histone mRNAs. Cell Rep 5(5):1187-95. PubMed: 24332368 MGI: J:204134
Turner BJ; Parkinson NJ; Davies KE; Talbot K. 2009. Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis 34(3):511-7. PubMed: 19332122 MGI: J:150474
Valsecchi V; Boido M; De Amicis E; Piras A; Vercelli A. 2015. Expression of Muscle-Specific MiRNA 206 in the Progression of Disease in a Murine SMA Model. PLoS One 10(6):e0128560. PubMed: 26030275 MGI: J:237725
Van Meerbeke JP; Gibbs RM; Plasterer HL; Miao W; Feng Z; Lin MY; Rucki AA; Wee CD; Xia B; Sharma S; Jacques V; Li DK; Pellizzoni L; Rusche JR; Ko CP; Sumner CJ. 2013. The DcpS inhibitor RG3039 improves motor function in SMA mice. Hum Mol Genet 22(20):4074-83. PubMed: 23727836 MGI: J:201100
Voigt T; Meyer K; Baum O; Schumperli D. 2010. Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing. Neuromuscul Disord 20(11):744-52. PubMed: 20832308 MGI: J:231141
Walker MP; Rajendra TK; Saieva L; Fuentes JL; Pellizzoni L; Matera AG. 2008. SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum Mol Genet 17(21):3399-410. PubMed: 18689355 MGI: J:140332
Wishart TM; Huang JP; Murray LM; Lamont DJ; Mutsaers CA; Ross J; Geldsetzer P; Ansorge O; Talbot K; Parson SH; Gillingwater TH. 2010. SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. Hum Mol Genet 19(21):4216-28. PubMed: 20705736 MGI: J:164890
Workman E; Saieva L; Carrel TL; Crawford TO; Liu D; Lutz C; Beattie CE; Pellizzoni L; Burghes AH. 2009. A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet 18(12):2215-29. PubMed: 19329542 MGI: J:148541
Zhang H; Robinson N; Wu C; Wang W; Harrington MA. 2010. Electrophysiological properties of motor neurons in a mouse model of severe spinal muscular atrophy: in vitro versus in vivo development. PLoS One 5(7):e11696. PubMed: 20657731 MGI: J:163103
Zhang Z; Pinto AM; Wan L; Wang W; Berg MG; Oliva I; Singh LN; Dengler C; Wei Z; Dreyfuss G. 2013. Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. Proc Natl Acad Sci U S A 110(48):19348-53. PubMed: 24191055 MGI: J:202974
Zhou C; Feng Z; Ko CP. 2016. Defects in Motoneuron-Astrocyte Interactions in Spinal Muscular Atrophy. J Neurosci 36(8):2543-53. PubMed: 26911699 MGI: J:231598
d'Errico P; Boido M; Piras A; Valsecchi V; De Amicis E; Locatelli D; Capra S; Vagni F; Vercelli A; Battaglia G. 2013. Selective vulnerability of spinal and cortical motor neuron subpopulations in delta7 SMA mice. PLoS One 8(12):e82654. PubMed: 24324819 MGI: J:209739

Additional - Tg(ACTA1-SMN)69Ahmb related

Le TT; Pham LT; Butchbach ME; Zhang HL; Monani UR; Coovert DD; Gavrilina TO; Xing L; Bassell GJ; Burghes AH. 2005. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 14(6):845-57. PubMed: 15703193 MGI: J:97103
Osman EY; Miller MR; Robbins KL; Lombardi AM; Atkinson AK; Brehm AJ; Lorson CL. 2014. Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models. Hum Mol Genet 23(18):4832-45. PubMed: 24781211 MGI: J:213594
Zhang H; Robinson N; Wu C; Wang W; Harrington MA. 2010. Electrophysiological properties of motor neurons in a mouse model of severe spinal muscular atrophy: in vitro versus in vivo development. PLoS One 5(7):e11696. PubMed: 20657731 MGI: J:163103

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Genetic overview

Research Applications

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Detailed Description

Development

Expression Data

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Additional Information

Selected References

Grm7Tg(SMN2)89Ahmb

Allele Symbol: Grm7Tg(SMN2)89Ahmb

Smn1tm1Msd

Allele Symbol: Smn1tm1Msd

Tg(ACTA1-SMN)69Ahmb

Allele Symbol: Tg(ACTA1-SMN)69Ahmb

Disease Terms

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Smn1tm1Msd related

Mammalian Phenotype Terms by Genotype

Genotype: Smn1tm1Msd/Smn1tm1Msd Tg(ACTA1-SMN)69Ahmb/Tg(ACTA1-SMN)69Ahmb Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmbinvolves: 129P2/OlaHsd * FVB/N

mortality/aging

References

Additional - Grm7Tg(SMN2)89Ahmb related

Additional - Smn1tm1Msd related

Additional - Tg(ACTA1-SMN)69Ahmb related

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Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

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Grm7^{Tg(SMN2)89Ahmb}

Allele Symbol: Grm7^{Tg(SMN2)89Ahmb}

Smn1^tm1Msd

Allele Symbol: Smn1^tm1Msd

Genotype: Smn1^tm1Msd related

Genotype: Smn1^tm1Msd/Smn1^tm1Msd Tg(ACTA1-SMN)69Ahmb/Tg(ACTA1-SMN)69Ahmb Grm7^{Tg(SMN2)89Ahmb}/Grm7^{Tg(SMN2)89Ahmb}
involves: 129P2/OlaHsd * FVB/N

Additional - Grm7^{Tg(SMN2)89Ahmb} related

Additional - Smn1^tm1Msd related