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| 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). | ||||||||||||||||||||||||||
- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Congenic; Targeted Mutation; Transgenic; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Mating System See Colony Maintenance under the Health & husbandry tab (Female x Male) 20-OCT-10 Species laboratory mouse Donating Investigator Thierry Bordet, TROPHOS 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).Development
These triple mutant mice were generated by crossing male Stock no. 008629 and female Stock no. 008630. The two randomly inserted transgenes segregate independently.
Control Information
| Control | ||
|---|---|---|
| 005304 C57BL/6NJ | ||
| Considerations for Choosing Controls | ||
Related Strains
Spinal Muscular Atrophy (SMA) Models
View Spinal Muscular Atrophy (SMA) Models (42 strains)
008629 B6.Cg-Tg(SMN2)11Tro Smn1tm1Msd/J
008630 B6.Cg-Tg(SMN2)46Tro Smn1tm1Msd/J
008629 B6.Cg-Tg(SMN2)11Tro Smn1tm1Msd/J
008630 B6.Cg-Tg(SMN2)46Tro Smn1tm1Msd/J
Additional Web Information
Reference Guide to Mouse Models of Spinal Muscular Atrophy manual [.pdf]
Visit the Spinal Muscular Atrophy (SMA) Mouse Model Resource site for helpful information on SMA Disease and research resources.
Phenotype
Phenotype Information
Spinal Muscular Atrophy, Type I; SMA1 - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s). assigned by 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)
- partial postnatal lethality
- 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)
- 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)
- behavior/neurological phenotype
- *normal* behavior/neurological phenotype
- 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 phenotype
- 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
- *normal* homeostasis/metabolism phenotype
- mice exhibit normal response to hypoxia including normal increase in ventilation, ultrasonic vocalization, and motor responses (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)
This mouse can be used to support research in many areas including:
Smn1tm1Msd relatedNeurobiology Research
Neurodegeneration
Neuromuscular Defects
Spinal Muscular Atrophy (SMA)
Neurobiology Research
Spinal Muscular Atrophy (SMA)
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Smn1tm1Msd | ||
|---|---|---|---|
| Allele Name | targeted mutation 1, Michael Sendtner | ||
| Allele Type | Targeted (Reporter) | ||
| Common Name(s) | SMN-; | ||
| Mutation Made By | Michael Sendtner, | ||
| Strain of Origin | 129P2/OlaHsd | ||
| ES Cell Line Name | E14TG2aIV | ||
| ES Cell Line Strain | 129P2/OlaHsd | ||
| Site of Expression | The expression of the lacZ gene in tissues where Smn is normally expressed was noted. | ||
| Expressed Gene | lacZ, beta-galactosidase, E. coli | ||
| 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. [MGI Ref ID J:42813] | ||
| Gene Symbol and Name | Smn1, survival motor neuron 1 | ||
| Chromosome | 13 | ||
| Gene Common Name(s) | AI849087; BCD541; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMN2; SMNT; Smn; T-BCD541; expressed sequence AI849087; survival motor neuron; | ||
| Allele Symbol | Tg(SMN2)11Tro | ||
| Allele Name | transgene insertion 11, Thierry Bordet | ||
| Allele Type | Transgenic (random, expressed) | ||
| Common Name(s) | SMN2(N11); | ||
| Strain of Origin | FVB/N | ||
| Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human | ||
| Promoter | SMN2, survival of motor neuron 2, centromeric, human | ||
| 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. [MGI Ref ID J:144852] | ||
| Allele Symbol | Tg(SMN2)46Tro | ||
| Allele Name | transgene insertion 46, Thierry Bordet | ||
| Allele Type | Transgenic (random, expressed) | ||
| Common Name(s) | SMN2(N46); | ||
| Strain of Origin | FVB/N | ||
| Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human | ||
| Promoter | SMN2, survival of motor neuron 2, centromeric, human | ||
| 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, wereestablished. [MGI Ref ID J:144853] | ||
Genotyping
Genotyping Information
Genotyping Protocols
SMN Genomic, QPCR
Smn1tm1Msd, Melt Curve Analysis
Smn1tm1Msd, Separated PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Bordet T. 2009. Generation of an SMN2 transgene (line 11) MGI Direct Data Submission :. [MGI Ref ID J:144852]
Bordet T. 2009. Generation of an SMN2 transgene (line 46) MGI Direct Data Submission :. [MGI Ref ID 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: 20085811] [MGI Ref ID J:159930]
Additional References
Smn1tm1Msd relatedBalasubramaniam V; Ryan SL; Seedorf GJ; Roth EV; Heumann TR; Yoder MC; Ingram DA; Hogan CJ; Markham NE; Abman SH. 2010. Bone marrow-derived angiogenic cells restore lung alveolar and vascular structure after neonatal hyperoxia in infant mice. Am J Physiol Lung Cell Mol Physiol 298(3):L315-23. [PubMed: 20008116] [MGI Ref ID J:157669]
Baumer D; Lee S; Nicholson G; Davies JL; Parkinson NJ; Murray LM; Gillingwater TH; Ansorge O; Davies KE; Talbot K. 2009. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet 5(12):e1000773. [PubMed: 20019802] [MGI Ref ID J:161744]
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 Ref ID J:164456]
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 Ref ID J:170476]
Bowerman M; Anderson CL; Beauvais A; Boyl PP; Witke W; Kothary R. 2009. SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. Mol Cell Neurosci 42(1):66-74. [PubMed: 19497369] [MGI Ref ID J:154248]
Bowerman M; Beauvais A; Anderson CL; Kothary R. 2010. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 19(8):1468-78. [PubMed: 20097679] [MGI Ref ID J:158345]
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 Ref ID 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 Ref ID J:156779]
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 Ref ID 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 Ref ID J:168716]
El-Khodor BF; Edgar N; Chen A; Winberg ML; Joyce C; Brunner D; Suarez-Farinas M; Heyes MP. 2008. Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy. Exp Neurol 212(1):29-43. [PubMed: 18455159] [MGI Ref ID J:137949]
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 Ref ID J:176009]
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 Ref ID J:131663]
Gladman JT; Bebee TW; Edwards C; Wang X; Sahenk Z; Rich MM; Chandler DS. 2010. A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. Hum Mol Genet 19(21):4239-52. [PubMed: 20705738] [MGI Ref ID J:164889]
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 Ref ID J:174332]
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 Ref ID J:164446]
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 Ref ID J:134807]
Jablonka S; Holtmann B; Meister G; Bandilla M; Rossoll W; Fischer U; Sendtner M. 2002. Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death. Proc Natl Acad Sci U S A 99(15):10126-31. [PubMed: 12091709] [MGI Ref ID J:81784]
Jablonka S; Karle K; Sandner B; Andreassi C; von Au K; Sendtner M. 2006. Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy. Hum Mol Genet 15(3):511-8. [PubMed: 16396995] [MGI Ref ID J:105422]
Jablonka S; Schrank B; Kralewski M; Rossoll W; Sendtner M. 2000. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. Hum Mol Genet 9(3):341-6. [PubMed: 10655542] [MGI Ref ID J:60591]
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 Ref ID 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: 19158308] [MGI Ref ID 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 Ref ID J:174791]
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 Ref ID 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 Ref ID 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 Ref ID 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 Ref ID 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 Ref ID J:166818]
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 Ref ID J:176007]
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 Ref ID J:138317]
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 Ref ID J:143540]
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 Ref ID 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 Ref ID 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 Ref ID 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 Ref ID 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 Ref ID J:176892]
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 Ref ID 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 Ref ID J:130114]
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 Ref ID J:164292]
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 Ref ID J:158347]
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 Ref ID J:145746]
Rose FF Jr; Meehan PW; Coady TH; Garcia VB; Garcia ML; Lorson CL. 2008. The Wallerian degeneration slow (Wld(s)) gene does not attenuate disease in a mouse model of spinal muscular atrophy. Biochem Biophys Res Commun 375(1):119-23. [PubMed: 18680723] [MGI Ref ID J:140130]
Rossoll W; Jablonka S; Andreassi C; Kroning AK; Karle K; Monani UR; Sendtner M. 2003. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 163(4):801-12. [PubMed: 14623865] [MGI Ref ID J:86712]
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 Ref ID J:157700]
Schrank B; Gotz R; Gunnersen JM; Ure JM; Toyka KV; Smith AG ; Sendtner M. 1997. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A 94(18):9920-5. [PubMed: 9275227] [MGI Ref ID J:42813]
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 Ref ID 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 Ref ID J:175452]
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 Ref ID J:151438]
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 Ref ID J:150474]
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 Ref ID 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 Ref ID J:164890]
Workman E; Saieva L; Carrel TL; Crawford TO; Liu D; Lutz C; Beattie CE; Pellizzoni L; Burghes AH. 2009. A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet 18(12):2215-29. [PubMed: 19329542] [MGI Ref ID 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 Ref ID J:163103]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number AX12
Colony Maintenance
Mating System See Colony Maintenance under the Health & husbandry tab (Female x Male) 20-OCT-10
Purchasing information
Pricing, Supply Level & Notes, Controls
This strain is currently Under Development for Cryo.
| Pricing for USA, Canada and Mexico shipping destinations |
|
Live Mice
Price (US dollars $) Gender Genotypes Provided Individual Mouse $261.00 Female or Male Hemizygous for Tg(SMN2)11Tro, Hemizygous for Tg(SMN2)46Tro, Heterozygous for Smn1tm1Msd $261.00 Female or Male Hemizygous for Tg(SMN2)11Tro, Hemizygous for Tg(SMN2)46Tro, Wild-type for Smn1tm1Msd
Pairs /Price (US dollars $) Pair Genotype $522.00 B6.Cg-Tg(SMN2)11Tro Smn1tm1Msd/J (008629) x B6.Cg-Tg(SMN2)46Tro Smn1tm1Msd/J (008630) $522.00 B6.Cg-Tg(SMN2)46Tro Smn1tm1Msd/J (008630) x B6.Cg-Tg(SMN2)11Tro Smn1tm1Msd/J (008629) Standard Supply
Under Development for Cryopreservation Repository
| Pricing for International shipping destinations |
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Live Mice
Price (US dollars $) Gender Genotypes Provided Individual Mouse $339.30 Female or Male Hemizygous for Tg(SMN2)11Tro, Hemizygous for Tg(SMN2)46Tro, Heterozygous for Smn1tm1Msd $339.30 Female or Male Hemizygous for Tg(SMN2)11Tro, Hemizygous for Tg(SMN2)46Tro, Wild-type for Smn1tm1Msd
Pairs /Price (US dollars $) Pair Genotype $678.60 B6.Cg-Tg(SMN2)11Tro Smn1tm1Msd/J (008629) x B6.Cg-Tg(SMN2)46Tro Smn1tm1Msd/J (008630) $678.60 B6.Cg-Tg(SMN2)46Tro Smn1tm1Msd/J (008630) x B6.Cg-Tg(SMN2)11Tro Smn1tm1Msd/J (008629) Standard Supply
Under Development for Cryopreservation Repository
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Standard Supply
Under Development for Cryopreservation Repository
General Supply Notes
- This strain is included in the Induced Mutant Resource Colony collection.
Control Information
| Control | ||
|---|---|---|
| 005304 C57BL/6NJ | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
See Terms of Use tab for General Terms and Conditions
The Jackson Laboratory's Genotype Promise
The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.Ordering Information
JAX® Mice
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For Licensing and Use Restrictions view the link(s) below:
- Strain(s) not available to companies or for-profit entities.
Contact information
General inquiriesContracts Administration
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
JAX® Mice, Products & Services Conditions of Use
"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.
In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.
No Liability
In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.
MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.
The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.
Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.