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| These SMN2; Smn; PrP92-SMN mutant mice may be useful in neuromuscular studies including spinal muscular atrophy (SMA). | |||||||||||||||
- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
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Description
Strain Information
Type Mutant Stock; Targeted Mutation; Transgenic; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Mating System See Colony Maintenance Species laboratory mouse Generation F?+F3 (11-APR-09) Donating Investigator Arthur Burghes, The Ohio State University Description
As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and human SMN2 transgene (SMN2 low copy line 89) exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the PrP-SMN transgene; with the mouse prion protein (PrP or Prnp) promoter directing full-length human SMN expression at high levels in neurons (with low expression in skeletal muscle and liver). When the PrP-SMN transgene is derived from PrP92-SMN founder mice, high SMN expression in spinal cord and brain is observed. Homozygous SMN2; Smn; Prp92-SMN mice are rescued from the severe SMA phenotype, have significantly increased lifespan (average of 210 days) and have normal lumbar motor neuron root counts. Homozygous SMN2; Smn; PrP92-SMN males are infertile, females are fertile but poor mothers, and both sexes exhibit necrotic tail development with about one-third of the normal length remaining around the time of weaning. These SMN2; Smn; PrP92-SMN mutant mice may be useful in neuromuscular studies including spinal muscular atrophy (SMA).Development
These SMN2; Smn; PrP92-SMN mutant mice harbor a targeted mutation and two trangenes, all independently created.The Smn1tm1Msd targeted mutation was created in the laboratory of Dr. Michael Sendtner at the University of Wurzburg, Germany. Exon 2 of the targeted gene was disrupted with a neomycin cassette and a lacZ gene (fused to the first 40 nucleotides of the disrupted exon to permit expression of the lacZ gene in tissues where Smn is normally expressed). The construct was electroporated into 129P2/OlaHsd-derived E14Tg2a-IV embryonic stem (ES) cells. Chimeric animals were crossed to C57BL/6 for an unspecified number of generations.
The PrP-SMN transgene was designed with the mouse prion protein gene (PrP or Prnp) promoter region and exon 1 and 2, full-length SMN cDNA (containing exons 1-8), and two SV40 polyA signals. This transgene was microinjected into fertilized FVB/N oocytes. Mice from founder line 92 (PrP92-SMN) were found to have 8-9 copies of the transgene.
The SMN2 transgene was created in the laboratory of Dr. Arthur Burghes at The Ohio State University. A 35.5 kb BamHI genomic fragment encoding the human SMN2 promoter and gene (derived from genomic clone PAC215P15) was injected into fertilized FVB/N mouse oocytes and founder animals obtained. Transgenic SMN2 mice from founder line 89 were established and found to contain one copy of the transgene (also called SMN2 low copy line 89).
These SMN2; Smn; PrP92-SMN mutant mice (heterozygous for the targeted mutation and homozygous for both transgenes) were maintained on a mixed genetic background (mostly FVB/N and C57BL/6) for many generations prior to arrival at The Jackson Laboratory.
Related Strains
lacZ Expression Strains
View lacZ Expression Strains (186 strains)
003960 129S6-Tg(Prnp-GFP/cre)1Blw/J 005866 B6.Cg-Tg(APP695)3Dbo Tg(PSEN1dE9)S9Dbo/J 005864 B6.Cg-Tg(APPswe,PSEN1dE9)85Dbo/J 006006 B6.Cg-Tg(Prnp-APP)A-2Dbo/J 008596 B6.Cg-Tg(Prnp-Abca1)EHol/J 006005 B6.Cg-Tg(Prnp-App/APPswe)E1-2Dbo/J 007180 B6.Cg-Tg(Prnp-ITM2B/APP695*40)1Emcg/J 007182 B6.Cg-Tg(Prnp-ITM2B/APP695*42)A12Emcg/J 010700 B6.Cg-Tg(Prnp-TARDBP*A315T)95Balo/J 007002 B6;C3-Tg(Prnp-ITM2B/APP695*42)A12Emcg/J 008169 B6;C3-Tg(Prnp-MAPT*P301S)PS19Vle/J 004479 B6;C3-Tg(Prnp-SNCA*A53T)83Vle/J 003378 B6C3-Tg(APP695)3Dbo Tg(PSEN1)5Dbo/J 004462 B6C3-Tg(APPswe,PSEN1dE9)85Dbo/J 003627 B6C3-Tg(HD82Gln)81Dbo/J 008075 B6CBA(FVB)-Tg(Prnp-TBP*)105Xjl/J 008083 B6CBA(FVB)-Tg(Prnp-TBP*)13Xjl/J 008216 B6CBA(FVB)-Tg(Prnp-TBP*)71-16Xjl/J 003741 B6D2-Tg(Prnp-MAPT)43Vle/J 003375 C3B6-Tg(APP695)3Dbo/J
008209 FVB.Cg-Smn1tm1Msd Tg(ACTA1-SMN)69Ahmb Tg(SMN2)89Ahmb/J 005026 FVB.Cg-Tg(SMN2)89Ahmb Tg(SMN1*A2G)2023Ahmb Smn1tm1Msd/J 008203 STOCK Smn1tm1Msd Tg(ACTA1-SMN)63Ahmb Tg(SMN2)89Ahmb/J
006146 B6.129-Smn1tm1Jme/J 008453 B6.129-Smn1tm4(SMN2)Mrph/J 008714 B6.129-Smn1tm5(Smn1/SMN2)Mrph/J 009378 B6.129-Smn1tm6(SMN2)Mrph/J 007963 B6.Cg-Smn1tm2Mrph/J 007966 B6.Cg-Smn1tm3(SMN2/Smn1)Mrph/J 007246 B6;129-Smn1tm2Mrph/J 007249 B6;129-Smn1tm3(SMN2/Smn1)Mrph/J 008383 B6;129-Smn1tm4(SMN2)Mrph/J 008384 B6;129-Smn1tm5(Smn1/SMN2)Mrph/J 008704 B6;129-Smn1tm6(SMN2)Mrph/J 006138 FVB.129(B6)-Smn1tm1Jme/J 008713 FVB.129(B6)-Smn1tm4(SMN2)Mrph/J 008604 FVB.129(B6)-Smn1tm5(Smn1/SMN2)Mrph/J 008782 FVB.Cg-Smn1tm1Msd Tg(SMN2)89Ahmb Tg(SMN2*A111G)588Ahmb/J 009134 FVB.Cg-Smn1tm1Msd Tg(SMN2)89Ahmb Tg(SMN2*A111G)591Ahmb/J 007955 FVB.Cg-Smn1tm2Mrph/J 007964 FVB.Cg-Smn1tm3(SMN2/Smn1)Mrph/J 009381 FVB.Cg-Smn1tm6(SMN2)Mrph/J 005058 FVB.Cg-Tg(SMN2)2Hung Smn1tm1Hung/J 007951 STOCK Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb/J
Additional Web Information
Fluorescent Proteins/lacZ Systems
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
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Smn1tm1Msd/Smn1tm1Msd Tg(Prnp-SMN)92Ahmb/0 Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb
involves: 129P2/OlaHsd * FVB/N
- life span-post-weaning/aging
- premature death (MGI Ref ID J:131663)
- double mutants survive an average of 150 days
Smn1tm1Msd/Smn1tm1Msd Tg(Prnp-SMN)92Ahmb/Tg(Prnp-SMN)92Ahmb Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb
involves: 129P2/OlaHsd * FVB/N
- life span-post-weaning/aging
- premature death (MGI Ref ID J:131663)
- double mutants survive an average of 210 days, with many living more than 1 year
- lifespan is less than that of Smn1tm1Msd heterozygotes
- muscle phenotype
- decreased skeletal muscle fiber size (MGI Ref ID J:131663)
- muscle fiber distribution is different from normal muscle; mice have a greater number of smaller diameter fibers relative to controls
- nervous system phenotype
- *normal* nervous system phenotype (MGI Ref ID J:131663)
- mice have normal motor neuron counts and lumbar root counts, compared to triple homozygotes for Smn1tm1Msd, Tg(ACTA1-SMN)63Ahmb, and Tg(SMN2)89Ahmb
This mouse can be used to support research in many areas including:
Smn1tm1Msd relatedDevelopmental 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: multiple
Tissue/Cell Markers: neurons
Neurobiology Research
cell marker
Neurobiology Research
Spinal Muscular Atrophy (SMA)
Genes & Alleles
Gene & Allele Information
| 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. | ||
| Gene Symbol and Name | Smn1, survival motor neuron 1 | ||
| Chromosome | 13 | ||
| Gene Common Name(s) | AI849087; BCD541; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNT; Smn; T-BCD541; expressed sequence AI849087; survival motor neuron; | ||
| 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] | ||
| Allele Symbol | Tg(Prnp-SMN)92Ahmb | ||
| Allele Name | transgene insertion 92, Arthur H M Burghes | ||
| Allele Type | Transgenic (random, expressed) | ||
| Common Name(s) | PrP92-SMN; | ||
| Strain of Origin | FVB/N | ||
| Site of Expression | The expression of the lacZ gene in tissues where Smn is normally expressed was noted. | ||
| Expressed Gene | SMN1, survival of motor neuron 1, telomeric, human | ||
| Promoter | Prnp, prion protein, mouse, laboratory | ||
| Molecular Note | The PrP-SMN transgene was designed with the mouse prion protein gene (PrP or Prnp) promoter region and exon 1 and 2, full-length SMN cDNA (containing exons 1-8), and two SV40 polyA signals. Mice from founder line 92 (PrP92-SMN) were found to have 8-9 copies of the transgene. [MGI Ref ID J:131663] | ||
| Allele Symbol | Tg(SMN2)89Ahmb | ||
| Allele Name | transgene insertion 89, Arthur H M Burghes | ||
| Allele Type | Transgenic (random, expressed) | ||
| Common Name(s) | SMN2; | ||
| Mutation Made By | Arthur Burghes, Ohio State University | ||
| Strain of Origin | FVB/N | ||
| 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 | SMN2, survival of motor neuron 2, centromeric, human | ||
| Promoter | SMN2, survival of motor neuron 2, centromeric, human | ||
| 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. [MGI Ref ID J:60592] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Smn1tm1Msd, Melt Curve Analysis
Smn1tm1Msd, Separated PCR
Tg(SMN2)89Ahmb, Melt Curve Analysis
Tg(SMN2)89Ahmb, Standard PCR
Tg(SMN2*delta7)4299Ahmb, QPCR
Tg(SMN2*delta7)4299Ahmb, QPCR
Helpful Links
Genotyping resources and troubleshooting
References
References
Selected Reference(s)
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]
Additional References
Smn1tm1Msd relatedTg(Prnp-SMN)92Ahmb relatedBordet 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]
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]
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]
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]
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]
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]
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]
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]
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]
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]
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]
Tg(SMN2)89Ahmb relatedLe 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]
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 Ref ID J:120738]
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]
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; 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]
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]
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]
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]
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]
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]
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]
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]
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]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number AX12
Colony Maintenance
Breeding & Husbandry When maintaining a live colony, mice heterozygous for the Smn1tm1Msd targeted mutation, homozygous for the SMN2 low copy line 89 transgene, and homozygous for the PrP92-SMN transgene are bred together. The donating investigator reports that mice homozygous for all three mutations are poor breeders (males infertile, females poor mothers). The SMN2 low copy line 89 transgene is reported to have a single copy (thus homozygotes have 2 copies). The PrP92-SMN transgene copy number should be monitored as the phenotype of SMA models may be greatly affected by copy number variations. Mating System See above Diet Information LabDiet® 5K52/5K67
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $148.30 Female or Male Heterozygous for Smn1tm1Msd, Homozygous for Tg(Prnp-SMN)92Ahmb, Homozygous for Tg(SMN2)89Ahmb
Pairs /Price (US dollars $) Pair Genotype $296.60 Heterozygous for Smn1tm1Msd, Homozygous for Tg(Prnp-SMN)92Ahmb, Homozygous for Tg(SMN2)89Ahmb x Heterozygous for Smn1tm1Msd, Homozygous for Tg(Prnp-SMN)92Ahmb, Homozygous for Tg(SMN2)89Ahmb
Additional Supply Details
| Pricing for International shipping destinations |
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Weeks of Age Price (US dollars $) Gender Genotypes Provided Individual Mouse $192.80 Female or Male Heterozygous for Smn1tm1Msd, Homozygous for Tg(Prnp-SMN)92Ahmb, Homozygous for Tg(SMN2)89Ahmb
Pairs /Price (US dollars $) Pair Genotype $385.60 Heterozygous for Smn1tm1Msd, Homozygous for Tg(Prnp-SMN)92Ahmb, Homozygous for Tg(SMN2)89Ahmb x Heterozygous for Smn1tm1Msd, Homozygous for Tg(Prnp-SMN)92Ahmb, Homozygous for Tg(SMN2)89Ahmb
Additional Supply Details
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Supply Details
| Standard Supply | Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of approximately nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within two business days following order placement. |
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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 and Purchasing Information
Purchasing Information
JAX® Mice Orders
Surgical Services
Contact Information
Orders & Technical Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form
Terms of Use
Terms of Use
General Terms and Conditions
For Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.
Contact information
General inquiries
Contracts 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. 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.