JAX
Mouse Strain Datasheet - 008631
B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1tm1Msd/J
Also Known As: SMN2(N11, N46);Smn+/-
Triple mutant mice that are homozygous for the Smn1tm1Msd allele and hemizygous for the two transgenes, Tg(SMN2)11Tro and Tg(SMN2)46Tro, exhibit diminished weight gain, progressive muscle weakness, necrotic lesions and loss of neurons in the sciatic nerve. This mutant mouse strain may be useful in neuromuscular studies related to Spinal Muscular Atrophy (SMA).
Donating Investigator
Thierry Bordet, TROPHOS
Genetic overview
| Genetic Background | Generation |
|---|---|
|
|
Smn1tm1Msd
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Targeted (Null/Knockout, Reporter) | Smn1 | survival motor neuron 1 |
Tg(SMN2)11Tro
| Allele Type |
|---|
| Transgenic (Humanized sequence, Inserted expressed sequence) |
Tg(SMN2)46Tro
| Allele Type |
|---|
| Transgenic (Humanized sequence, Inserted expressed sequence) |
Detailed Description
Mice that are homozygous for the Smn1tm1Msd allele and hemizygous for the two transgenes, Tg(SMN2)11Tro and Tg(SMN2)46Tro, exhibit symptoms and neuropathology similar to patients afflicted with severe proximal spinal muscular atrophy (SMA). Triple mutants are indistinguishable from normal littermates in the first 4 days, after which they exhibit diminished weight gain. By 7 days of age, signs of muscle weakness are apparent and become progressively more pronounced over the following week as the mice display an abnormal gait. Mean survival is approximately 15 days although a few animals (<3%) can survive longer. Histological analysis indicates that 15 day old mice have a reduced number of lumbar motor neurons and axons in sciatic nerve. Gastrocnemius muscles at the same age clearly show evidence of atrophy. Triple mutant mice develop progressive and severe necrotic lesions of the tail, ears and teeth. Mice hemizygous for both transgenes and heterozygous for the targeted mutation do not exhibit SMA-like phenotype. This mutant mouse strain may be useful in neuromuscular studies related to Spinal Muscular Atrophy (SMA).
Expression Data
| 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 | |
| Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human |
| Site of Expression |
Control Suggestions
Selected References
- 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
- 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: 20085811MGI: J:159930
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)11Tro
Allele Symbol: Tg(SMN2)11Tro
| Allele Name | transgene insertion 11, Thierry Bordet |
|---|---|
| Allele Type | Transgenic (Humanized sequence, Inserted expressed sequence) |
| Allele Synonym(s) | SMN2(N11) |
| Gene Symbol and Name | Tg(SMN2)11Tro, transgene insertion 11, Thierry Bordet |
| Gene Synonym(s) | SMN2(N11) |
| Promoter | SMN2, survival of motor neuron 2, centromeric, human |
| Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human |
| Strain of Origin | FVB/N |
| Chromosome | UN |
| Molecular Note | A 35.5 kb Ba mHI genomic fragment encoding the human SMN2 promoter and gene (derived from genomic clone PAC215P15) was injected into fertilized FVB/N mouse oocytes. Transgenic SMN2 mice from founder line 11, which contains 1 copy of the transgene, were established. |
Tg(SMN2)46Tro
Allele Symbol: Tg(SMN2)46Tro
| Allele Name | transgene insertion 46, Thierry Bordet |
|---|---|
| Allele Type | Transgenic (Humanized sequence, Inserted expressed sequence) |
| Allele Synonym(s) | SMN2(N46) |
| Gene Symbol and Name | Tg(SMN2)46Tro, transgene insertion 46, Thierry Bordet |
| Gene Synonym(s) | SMN2(N46) |
| Promoter | SMN2, survival of motor neuron 2, centromeric, human |
| Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human |
| Strain of Origin | FVB/N |
| Chromosome | UN |
| Molecular Note | A 35.5 kb Ba mHI genomic fragment encoding the human SMN2 promoter and gene (derived from genomic clone PAC215P15) was injected into fertilized FVB/N mouse oocytes. Transgenic SMN2 mice from founder line 46, which contains 2 copies of the transgene, were established. |
Disease Terms
Research Areas By Genotype
This mouse can be used to support research in many areas including:
- Neurobiology Research
- Neurodegeneration
- Neuromuscular defects
- Spinal Muscular Atrophy (SMA)
Genotype: Smn1tm1Msd related
- Neurobiology Research
- Spinal Muscular Atrophy (SMA)
Mammalian Phenotype Terms by Genotype
Genotype: Smn1tm1Msd/Smn1tm1Msd Tg(SMN2)11Tro/0 Tg(SMN2)46Tro/0
B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1tm1Msd/J
mortality/aging
- decreased survivor rate
- more mice survive to adulthood and exhibit normal lethality when Tg(SMN2)11Tro is inherited paternally and Tg(SMN2)46Tro maternally than the reverse (MGI Ref ID J:159930)
- postnatal lethality, incomplete penetrance
- average survival is 15 days when Tg(SMN2)11Tro is inherited maternally and Tg(SMN2)46Tro paternally (MGI Ref ID J:159930)
- median survival is 14 days when Tg(SMN2)11Tro is inherited maternally and Tg(SMN2)46Tro paternally (MGI Ref ID J:159930)
- median survival is 22 days when Tg(SMN2)11Tro is inherited paternally and Tg(SMN2)46Tro maternally (MGI Ref ID J:159930)
craniofacial phenotype
- abnormal outer ear morphology
- in mice that survive to adulthood (MGI Ref ID J:159930)
integument phenotype
- increased thermal nociceptive threshold
- (MGI Ref ID J:159930)
nervous system phenotype
- abnormal neuromuscular synapse morphology
- at P15, neuromuscular synapses are disorganized with loss of endplate architecture compared to in wild-type mice (MGI Ref ID J:159930)
- abnormal phrenic nerve morphology
- at P15, mice exhibit a non-statistically significant axon loss in the phrenic nerves unlike wild-type mice (MGI Ref ID J:159930)
- abnormal sciatic nerve morphology
- at P15, mice exhibit a reduction in the number of myelinated axons of the ventral roots of the sciatic nerve compared with wild-type mice (MGI Ref ID J:159930)
- abnormal synaptic bouton morphology
- synpatic boutons exhibit neurofilament accumulation, are thick and swollen, and contain axonal disorganization compared to in wild-type mice (MGI Ref ID J:159930)
- axon degeneration
- decreased motor neuron number
- at P15, mice exhibit a decrease in motor neurons in the lumbar vertebrae compared to in wild-type mice (MGI Ref ID J:159930)
muscle phenotype
- abnormal muscle electrophysiology
- at P15, mice exhibit reduced compound muscle action potential (CMAP) amplitude and extend CMAP latency and duration compared with wild-type mice (MGI Ref ID J:159930)
- abnormal skeletal muscle fiber morphology
- muscle fiber diameter in the gastrocnemius is reduced compared to in wild-type mice (MGI Ref ID J:159930)
- muscular atrophy
- (MGI Ref ID J:159930)
- progressive muscle weakness
- at P9 and worsening over the following week (MGI Ref ID J:159930)
respiratory system phenotype
- abnormal respiration
- from P1 to P7, maturation of breathing variables is impaired compared with wild-type mice (MGI Ref ID J:159930)
- abnormal respiratory mechanics
- apnea
- at P7, mice exhibit apneas unlike wild-type mice (MGI Ref ID J:159930)
- decreased pulmonary ventilation
behavior/neurological phenotype
- abnormal gait
- at P14 (MGI Ref ID J:159930)
- behavior/neurological phenotype
- increased thermal nociceptive threshold
- (MGI Ref ID J:159930)
- positive geotaxis
limbs/digits/tail phenotype
- abnormal autopod morphology
- in mice that survive to adulthood (MGI Ref ID J:159930)
- abnormal tail morphology
- in mice that survive to adulthood (MGI Ref ID J:159930)
growth/size/body region phenotype
- abnormal outer ear morphology
- in mice that survive to adulthood (MGI Ref ID J:159930)
- slow postnatal weight gain
- after P4 (MGI Ref ID J:159930)
hearing/vestibular/ear phenotype
- abnormal outer ear morphology
- in mice that survive to adulthood (MGI Ref ID J:159930)
homeostasis/metabolism phenotype
- homeostasis/metabolism phenotype
- mice exhibit normal response to hypoxia including normal increase in ventilation, ultrasonic vocalization, and motor responses (MGI Ref ID J:159930)
References
- 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
- 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: 20085811MGI: J:159930
Additional - Smn1tm1Msd 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
- 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: 20008116MGI: 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: 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; 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: 19497369MGI: 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: 20097679MGI: 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: 24497575MGI: 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: 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
- 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: 26502195MGI: 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: 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
- 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: 28108555MGI: 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: 25338097MGI: 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: 21118896MGI: 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: 18455159MGI: 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: 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
- 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: 23897586MGI: 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: 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
- 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: 26423457MGI: 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: 20705738MGI: 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: 23736298MGI: 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: 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; 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: 12091709MGI: 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: 16396995MGI: 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: 10655542MGI: 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: 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
- 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: 22581780MGI: 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: 28062667MGI: 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: 19158308MGI: 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: 21693563MGI: 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: 25055867MGI: 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: 21672919MGI: 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: 15703193MGI: J:97103
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