JAX
Mouse Strain Datasheet - 005025
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
Also Known As: FVB.SMNΔ7;SMN2;Smn- , Moderate Type II SMA , Delta 7 mouse incipient congenic, Moderate Type II SMA mice, SMNdelta7;SMN2;Smn-/-
Mice that are homozygous for the Smn targeted mutant lacZ reporter allele and homozygous for the two transgenic alleles exhibit symptoms and neuropathology similar to patients afflicted with proximal spinal muscular atrophy (SMA). Triple homozygous mice on the FVB/N genetic background are noticeably smaller than normal littermates at birth and show progressive muscle weakness.
Donating Investigator
Arthur H.M. Burghes, The Ohio State University
Genetic overview
| Genetic Background | Generation |
|---|---|
|
N6+F20
(10-DEC-13) |
Grm7Tg(SMN2)89Ahmb
| Allele Type |
|---|
| Transgenic (Humanized sequence, Hypomorph, Inserted expressed sequence) |
Smn1tm1Msd
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Targeted (Null/Knockout, Reporter) | Smn1 | survival motor neuron 1 |
Tg(SMN2*delta7)4299Ahmb
| Allele Type |
|---|
| Transgenic (Humanized sequence, Inserted expressed sequence) |
Research Applications
- Developmental Biology Research
- Neurobiology Research
- Research Tools
Base Price
Starting at:
| $246.50 Domestic price for female |
| $493.00 Domestic price for breeder pair |
Detailed Description
This triple mutant mouse harbors two transgenic alleles and a single targeted mutant. The Tg(SMN2*delta7)4299Ahmb allele consists of a SMA 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 Smn allele and homozygous for the two transgenic alleles exhibit symptoms and neuropathology similar to patients afflicted with proximal spinal muscular atrophy (SMA). At birth, triple mutants are noticeably smaller than normal littermates. By day 5, signs of muscle weakness are apparent and become progressively more pronounced over the following week as the mice display an abnormal gait, shakiness in the hind limbs and a tendency to fall over. Mean survival is approximately 13 days. Immunocytochemical analysis indicates that dystrophin expression is normal, however fibers isolated from the gastrocnemius muscle of a 14 day old triple mutant clearly show evidence of atrophy.
Importation of this model was supported by the Spinal Muscular Atrophy Foundation. Creation and development was supported by the National Institutes of Health, the Deutsche Forschungsgemeinschaft to M.S., Families of SMA, the Preston fund, the Madison fund, the Mathew fund and the Muscular Dystrophy Association of America.
Development
The targeted mutant allele was created in the laboratory of Dr. Michael Sendtner at the University of Wurzburg, Germany. Exon 2 of the endogenous mouse Smn gene was disrupted by employing a targeting vector encoding 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. Correctly targeted ES cells were injected into C57BL/6 blastocysts and chimeric animals obtained. Chimeric animals were crossed to C57BL/6 for an unspecified number of generations.
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 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. Founder animal 89 was mated to mice heterozygous for the targeted mutation of the endogenous mouse Smn gene. These double mutants were in turn mated with mice bearing the SMNdelta7 transgenic allele. The triple mutant was then backcrossed to FVB/N for at least 6 generations.
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 | 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
- Appropriate controls depend on the nature of the experiment. FVB/NJ mice (Stock No. 001800) may be used as controls.
Approximate Controls
Additional Information
Selected References
- 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: 15703193MGI: J:97103
Grm7Tg(SMN2)89Ahmb
Allele Symbol: Grm7Tg(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, Ohio State University |
Smn1tm1Msd
Allele Symbol: Smn1tm1Msd
| 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(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, Ohio State University |
Disease Terms
Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Research Areas By Genotype
This mouse can be used to support research in many areas including:
- Developmental Biology Research
- Neurodevelopmental Defects
- Neurobiology Research
- lacZ expression in neural tissue
- Ataxia (Movement) Defects
- Neurodegeneration
- Neurodevelopmental Defects
- Neuromuscular 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: Smn1tm1Msd related
- Neurobiology Research
- Spinal Muscular Atrophy (SMA)
Mammalian Phenotype Terms by Genotype
Genotype: Smn1tm1Msd/Smn1tm1Msd Grm7Tg(SMN2)89Ahmb/0 Tg(SMN2*delta7)4299Ahmb/0
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb
mortality/aging
- postnatal lethality, complete penetrance
- mice do not survive past 16 days with a mean survival of 10 days (MGI Ref ID J:97103)
Genotype: Smn1tm1Msd/Smn1tm1Msd Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb Tg(SMN2*delta7)4299Ahmb/0
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
mortality/aging
- postnatal lethality
- mean lifespan is 13 days (MGI Ref ID J:194969)
growth/size/body region phenotype
- decreased body weight
- (MGI Ref ID J:194969)
cardiovascular system phenotype
- cardiac interstitial fibrosis
- mutants exhibit an increase in cardiac fibrosis compared to unaffected wild-type controls (MGI Ref ID J:194969)
- thin interventricular septum
- (MGI Ref ID J:194969)
muscle phenotype
- decreased skeletal muscle fiber size
- (MGI Ref ID J:194969)
Genotype: Smn1tm1Msd/Smn1tm1Msd Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
mortality/aging
- postnatal lethality, complete penetrance
- average survival of about 2 weeks (MGI Ref ID J:164446)
nervous system phenotype
- abnormal innervation pattern to muscle
- mice preferentially lack innervation of the caudal band of the levator auris longus (MGI Ref ID J:132467)
- abnormal neuromuscular synapse morphology
- abnormal sympathetic system morphology
- TH staining of the heart to visualize sympathetic innervation indicates that mutants exhibit fewer major neuronal branches and they appear thinner and less distinct (MGI Ref ID J:164446)
muscle phenotype
- decreased skeletal muscle fiber diameter
- muscle fiber diameter is decreased in both slow- and fast-twitch muscles compared to in wild-type mice (MGI Ref ID J:132467)
- dilated cardiomyopathy
- (MGI Ref ID J:164446)
cardiovascular system phenotype
- abnormal blood flow velocity
- echocardiography indicates that P6 mice exhibit deficiencies in blood flow out of the right ventricle at the pulmonary valve, with decreased peak velocity and peak gradient, indicating a reduction in pumping efficiency and blood flow from the right ventricle to the lungscle to the lungs (MGI Ref ID J:164446)
- abnormal heart morphology
- hearts appear flaccid and lack defined shape and gross attenuation of walls at P10 and P13 (MGI Ref ID J:164446)
- decreased heart rate
- dilated cardiomyopathy
- (MGI Ref ID J:164446)
- increased heart rate variability
- as mice near end of life, they display a large increase in heart rate variability, ultimately displaying adjacent RR intervals that are highly inconsistent (MGI Ref ID J:164446)
- prolonged PR interval
- prolonged QRS complex duration
- elongation of the time of ventricular depolarization through an increase in QRS interval duration beginning at P4 (MGI Ref ID J:164446)
growth/size/body region phenotype
- decreased body size
- (MGI Ref ID J:164446)
- weight loss
- begin to lose weight at around P10 (MGI Ref ID J:164446)
Genotype: Smn1tm1Msd/Smn1tm1Msd Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb
mortality/aging
- postnatal lethality, complete penetrance
- mice do not survive past 17 days with a mean survival of 13 days (MGI Ref ID J:97103)
behavior/neurological phenotype
- abnormal gait
- at P10, mice exhibit abnormal gait with fibrillation of the hindlimbs (MGI Ref ID J:97103)
- impaired balance
- by day 10, mice experience difficulty walking and often fall while walking unlike wild-type mice (MGI Ref ID J:97103)
- impaired limb coordination
- by day 10, mice experience difficulty walking and often fall while walking unlike wild-type mice (MGI Ref ID J:97103)
- impaired righting response
- at P5 (MGI Ref ID J:97103)
nervous system phenotype
- abnormal neuromuscular synapse morphology
- decreased motor neuron number
muscle phenotype
- skeletal muscle fiber atrophy
- at P14, muscle fibers of the gastrocnemius are small due to atrophy (MGI Ref ID J:97103)
growth/size/body region phenotype
- decreased body weight
- at P5 (MGI Ref ID J:97103)
References
- 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: 15703193MGI: J:97103
Additional - Grm7Tg(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: 22422766MGI: 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: 17318264MGI: 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: 20019802MGI: 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: 22763238MGI: 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: 20639395MGI: 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: 26460027MGI: 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: 21325354MGI: 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: 20097679MGI: 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: 24691550MGI: 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: 24119341MGI: 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: 24760765MGI: 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: 17561409MGI: 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: 19945425MGI: 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: 23390132MGI: 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: 23876328MGI: 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: 25557785MGI: 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: 21681521MGI: 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: 21118896MGI: 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: 27538421MGI: 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: 27030765MGI: 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: 23656793MGI: 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: 21785216MGI: 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: 26758873MGI: 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: 22306031MGI: 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: 18178576MGI: 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: 21396450MGI: 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: 22423102MGI: 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: 25859009MGI: 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: 22705478MGI: 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: 20693262MGI: 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: 24301677MGI: 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: 25692239MGI: 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: 26276812MGI: 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: 17923533MGI: 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: 16396995MGI: 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: 24463453MGI: 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: 18492800MGI: J:138437
- 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: 19158308MGI: 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: 25055867MGI: J:215597
- 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: 23029491MGI: 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: 21658376MGI: 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: 21968514MGI: 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: 21085654MGI: 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: 23063131MGI: J:189067
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Additional - Smn1tm1Msd related
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Additional - Tg(SMN2*delta7)4299Ahmb related
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