JAX Mouse Strain Datasheet - 007951

STOCK Grm7^{Tg(SMN2)89Ahmb} Smn1^{tm3(SMN2/Smn1)Mrph} Tg(SMN2*delta7)4299Ahmb/J

Stock No:: 007951 |; SMNΔ7;SMN2;Smn^Res , SMNΔ7;SMN2;Smn^COIN , Moderate Type II SMA Rescue , Delta 7 mouse with hybrid rescue allele

Cryo Recovery

Overview

Also Known As: SMNΔ7;SMN2;Smn^Res , SMNΔ7;SMN2;Smn^COIN , Moderate Type II SMA Rescue , Delta 7 mouse with hybrid rescue allele

This triple mutant mouse strain harbors two human SMN2 transgenic alleles and a single Smn1 targeted mutation, and may be useful in studies of Spinal Muscular Atrophy.

Donating Investigator

IMR Colony, The Jackson Laboratory

Genetic overview

Genetic Background	Generation

Grm7^{Tg(SMN2)89Ahmb}

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

Smn1^{tm3(SMN2/Smn1)Mrph}

Allele Type	Gene Symbol	Gene Name
Targeted (Conditional ready (e.g. floxed), Humanized sequence, No functional change)	Smn1	survival motor neuron 1

Allele Type
Transgenic (Humanized sequence, Inserted expressed sequence)

Research Applications

Neurobiology Research

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Base Price

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$2,595.00 Domestic price Cryo Recovery

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Details

Detailed Description

This triple mutant mouse harbors two transgenic alleles and a single targeted mutation. The Tg(SMN2*delta7)4299Ahmb allele consists of a human SMN2 (survival of motor neuron 2, centromeric) cDNA lacking exon 7 whereas the Tg(SMN2)89Ahmb allele consists of the entire human SMN2 gene. Mice that are homozygous for the targeted mutant Smn1^{tm3(SMN2/Smn1/SMN2)Mrph} allele and homozygous for the two transgenic alleles should function similarly to SMA mutant strain FVB.Cg-Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb Smn1^tm1Msd/J (Stock No. 005025). The targeted mutant Smn1^{tm3(SMN2/Smn1/SMN2)Mrph} allele is engineered to revert to a fully functional Smn1 allele upon Cre-mediated recombination. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy.

Importation of this model was supported by the Spinal Muscular Atrophy Foundation.

Development

The transgenic alleles were created in the laboratory of Dr. Arthur Burghes at Ohio State University. A 35.5 kb BamHI genomic fragment encoding the human SMN2 (survival of motor neuron 2, centromeric) promoter and gene (derived from genomic clone PAC215P15) was injected into fertilized FVB/N mouse oocytes and founder animal 89 was obtained. Similarly, a human SMN2 cDNA (SMNdelta7) lacking exon 7 under the control of the human SMN2 promoter was microinjected into fertilized FVB/N oocytes and founder animal 4299 was obtained. These double mutants were in turn mated with mice bearing the Smn1^{tm3(SMN2/Smn1/SMN2)Mrph} targeted mutation. The 129S6/SvEvTac X C57BL/6Tac hybrid derived F1H4 ES cell line was used to generate the targeted mutation.

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.
Site of Expression	Following Cre-mediated irreversible inversion of the fragment bordered by the lox71 and lox66 sites, the allele is "rescued" into a format that contains mouse Smn1 exons 1 through 7 and human SMN2 exon 8 and the resulting SMN protein is produced in motor neurons.
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.

Control Suggestions

Wild-type male from the colony

Additional Information

Considerations for Choosing Controls

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^{tm3(SMN2/Smn1)Mrph}

Allele Symbol: Smn1^{tm3(SMN2/Smn1)Mrph}

Allele Name	targeted mutation 3, Andrew Murphy
Allele Type	Targeted (Conditional ready (e.g. floxed), Humanized sequence, No functional change)
Allele Synonym(s)	Smn1 COIN (conditional inversion); Smn^INV; Smn^Res; hybrid rescue allele
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
Site of Expression	Following Cre-mediated irreversible inversion of the fragment bordered by the lox71 and lox66 sites, the allele is "rescued" into a format that contains mouse Smn1 exons 1 through 7 and human SMN2 exon 8 and the resulting SMN protein is produced in motor neurons.
Strain of Origin	(129S6/SvEvTac x C57BL/6NTac)F1
Chromosome	13
Molecular Note	Exons 7 and 8 of the mouse Smn1 (survival motor neuron 1) gene and a several hundred base pairs of flanking sequence were replaced with a fragment containing, in order: 1) an inverted lox71 site; 2) exon 7 from the human SMN2 (survival of motor neuron 2, centromeric) gene flanked by several hundred base pairs of intron sequence; 3) an inverted copy of mouse Smn1 exon 7 flanked by several hundred base pairs of intron sequence; 4) a lox66 site; 5) an FRT site remnant from a deleted selection cassette; and 6) human SMN2 exon 8 including the 3'UTR and polyA signal with several hundred base pairs of flanking sequence. The engineered allele expresses a hybrid Smn1 gene containing mouse Smn1 exons 1 through 6 and human SMN2 exons 7 and 8. The human SMN2 exon 7 is skipped in the majority of mRNA derived from the hybrid gene due to a single base pair difference in human SMN2 exon 7, compared to human SMN1 exon 7. Following Cre-mediated irreversible inversion of the fragment bordered by the lox71 and lox66 sites, the allele is "rescued" into a format that contains mouse Smn1 exons 1 through 7 and human SMN2 exon 8. Because the mouse Smn1 exon 8 is efficiently spliced, the majority of the mRNA from the rescue allele after Cre-mediated inversion contains mouse Smn1 exon 7.
Mutations Made By	Nicole Graiff, Regeneron

Tg(SMN2*delta7)4299Ahmb

Allele Symbol: Tg(SMN2*delta7)4299Ahmb

Allele Name	transgene insertion 4299, Arthur H M Burghes
Allele Type	Transgenic (Humanized sequence, Inserted expressed sequence)
Allele Synonym(s)	SMNdelta7; Tg(SMN1*delta7)4299Ahmb
Gene Symbol and Name	Tg(SMN2*delta7)4299Ahmb, transgene insertion 4299, Arthur H M Burghes
Gene Synonym(s)	SMNdelta7; Tg(SMN1*delta7)4299Ahmb
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	UN
Molecular Note	The transgene contains a human SMN2 promoter and a human SMN2 cDNA (SMNdelta7) that lacks exon 7.
Mutations Made By	Arthur Burghes, The Ohio State University

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Neurobiology Research
- Neurodegeneration
- Spinal Muscular Atrophy (SMA)

References

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
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
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
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 - Smn1^{tm3(SMN2/Smn1)Mrph} related

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
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
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
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
Martinez TL; Kong L; Wang X; Osborne MA; Crowder ME; Van Meerbeke JP; Xu X; Davis C; Wooley J; Goldhamer DJ; Lutz CM; Rich MM; Sumner CJ. 2012. Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy. J Neurosci 32(25):8703-8715. PubMed: 22723710 MGI: J:185657
McGovern VL; Iyer CC; Arnold WD; Gombash SE; Zaworski PG; Blatnik AJ 3rd; Foust KD; Burghes AH. 2015. SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNDelta7 mouse model of SMA. Hum Mol Genet 24(19):5524-41. PubMed: 26206889 MGI: J:226038
Murphy A (Regeneron Pharmaceuticals, Inc.). 2008. Smn1 hybrid rescue allele, COIN (conditional inversion) Personal Communication :. MGI: J:135423
Osborne M; Gomez D; Feng Z; McEwen C; Beltran J; Cirillo K; El-Khodor B; Lin MY; Li Y; Knowlton WM; McKemy DD; Bogdanik L; Butts-Dehm K; Martens K; Davis C; Doty R; Wardwell K; Ghavami A; Kobayashi D; Ko CP; Ramboz S; Lutz C. 2012. Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models. Hum Mol Genet :. PubMed: 22802075 MGI: J:186987
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
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
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

Additional - Tg(SMN2*delta7)4299Ahmb 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
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
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
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
Bricceno KV; Sampognaro PJ; Van Meerbeke JP; Sumner CJ; Fischbeck KH; Burnett BG. 2012. Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Hum Mol Genet 21(20):4448-59. PubMed: 22798624 MGI: J:187753
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
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
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
Gallart-Palau X; Tarabal O; Casanovas A; Sabado J; Correa FJ; Hereu M; Piedrafita L; Caldero J; Esquerda JE. 2014. Neuregulin-1 is concentrated in the postsynaptic subsurface cistern of C-bouton inputs to alpha-motoneurons and altered during motoneuron diseases. FASEB J 28(8):3618-32. PubMed: 24803543 MGI: J:217137
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
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
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
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
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; 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
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
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
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
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
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
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
Shababi M; Habibi J; Ma L; Glascock JJ; Sowers JR; Lorson CL. 2012. Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy. J Mol Cell Cardiol 52(5):1074-82. PubMed: 22285962 MGI: J:183695
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
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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
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
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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

Also Known As: SMNΔ7;SMN2;SmnRes , SMNΔ7;SMN2;SmnCOIN , Moderate Type II SMA Rescue , Delta 7 mouse with hybrid rescue allele

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Expression Data

Control Suggestions

Additional Information

Grm7Tg(SMN2)89Ahmb

Allele Symbol: Grm7Tg(SMN2)89Ahmb

Smn1tm3(SMN2/Smn1)Mrph

Allele Symbol: Smn1tm3(SMN2/Smn1)Mrph

Tg(SMN2*delta7)4299Ahmb

Allele Symbol: Tg(SMN2*delta7)4299Ahmb

Disease Terms

Research Areas By Genotype

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

References

Additional - Grm7Tg(SMN2)89Ahmb related

Additional - Smn1tm3(SMN2/Smn1)Mrph related

Additional - Tg(SMN2*delta7)4299Ahmb related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Progeny testing is not required

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Additional Use Restrictions Apply

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Also Known As: SMNΔ7;SMN2;Smn^Res , SMNΔ7;SMN2;Smn^COIN , Moderate Type II SMA Rescue , Delta 7 mouse with hybrid rescue allele

Grm7^{Tg(SMN2)89Ahmb}

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

Smn1^{tm3(SMN2/Smn1)Mrph}

Allele Symbol: Smn1^{tm3(SMN2/Smn1)Mrph}

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

Additional - Smn1^{tm3(SMN2/Smn1)Mrph} related