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| This strain functions as a reporter strain for Smn1 (survival motor neuron 1) in the heterozygous state. Exons 1 through 8 of the mouse Smn1 gene (12.8 kb) were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. This allele is a functional null and homozygous animals are embryonic lethal. | |||||||||||||||||||
- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
Description
Strain Information
Type Congenic; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Mating System Heterozygote x +/+ sibling (Female x Male) 16-JUN-09 Species laboratory mouse Generation N9 (16-MAR-11)
Generation DefinitionsDonating Investigator IMR Colony, The Jackson Laboratory Description
This strain functions as a reporter strain for Smn1 (survival motor neuron 1) in the heterozygous state. Exons 1 through 8 of the mouse Smn1 gene (12.8 kb) were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. This allele is a functional null and homozygous animals are embryonic lethal.Importation of this model was supported by the Spinal Muscular Atrophy Foundation.
Development
Exons 1 through 8 of the mouse Smn1 (survival motor neuron 1) gene (12.8 kb) were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. 129S6/SvEvTac and C57BL/6Tac derived F1H4 ES cells were used. The mice were then backcrossed to FVB/NJ for at least 5 generations.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 001800 FVB/NJ | ||
| Considerations for Choosing Controls | ||
Related Strains
Spinal Muscular Atrophy (SMA) Models
View Spinal Muscular Atrophy (SMA) Models (49 strains)
007963 B6.Cg-Smn1tm2Mrph/J 007246 B6;129-Smn1tm2Mrph/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
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Spinal Muscular Atrophy, Type II; SMA2 (SMN1)
Spinal Muscular Atrophy, Type III; SMA3 (SMN1)
Spinal Muscular Atrophy, Type IV; SMA4 (SMN1)
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Smn1tm2Mrph/Smn1tm2Mrph
involves: 129S6/SvEvTac * C57BL/6NTac
- mortality/aging
- complete prenatal lethality
- homozygotes die during development (MGI Ref ID J:135422)
Smn1tm2Mrph/Smn1tm2Mrph
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac
- mortality/aging
- complete embryonic lethality
- homozygotes are embryonic lethal (MGI Ref ID J:186987)
This mouse can be used to support research in many areas including:
Developmental Biology Research
Embryonic Lethality (Homozygous)
Neurobiology Research
Neurodegeneration
Spinal Muscular Atrophy (SMA)
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Smn1tm2Mrph | ||
|---|---|---|---|
| Allele Name | targeted mutation 2, Andrew Murphy | ||
| Allele Type | Targeted (Reporter) | ||
| Common Name(s) | Smn allele A; Smn1KI; Smn1KO; Smn1lacZ; | ||
| Mutation Made By | Nicole Graiff, Regeneron | ||
| Strain of Origin | (129S6/SvEvTac x C57BL/6NTac)F1 | ||
| ES Cell Line Name | F1H4 | ||
| ES Cell Line Strain | (129S6/SvEvTac x C57BL/6NTac)F1 | ||
| Gene Symbol and Name | Smn1, survival motor neuron 1 | ||
| Chromosome | 13 | ||
| Gene Common Name(s) | AI849087; BCD541; C-BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNC; SMNT; Smn; T-BCD541; TDRD16A; TDRD16B; expressed sequence AI849087; survival motor neuron; | ||
| Molecular Note | Exons 1 through 8 of the mouse Smn1 (survival motor neuron 1) gene were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. [MGI Ref ID J:135422] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Smn1tm2Mrph, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Murphy A (Regeneron Pharmaceuticals, Inc.). 2008. Smn1 deletion with lacZ knock in. Personal Communication :. [MGI Ref ID J:135422]
Additional References
Smn1tm2Mrph relatedOsborne M; Gomez D; Feng Z; McEwen C; Beltran J; Cirillo K; El-Khodor B; Lin MY; Li Y; Knowlton WM; McKemy DD; Bogdanik L; Butts-Dehm K; Martens K; Davis C; Doty R; Wardwell K; Ghavami A; Kobayashi D; Ko CP; Ramboz S; Lutz C. 2012. Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models. Hum Mol Genet :. [PubMed: 22802075] [MGI Ref ID J:186987]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Room Number AX12
Colony Maintenance
Mating System Heterozygote x +/+ sibling (Female x Male) 16-JUN-09 Diet Information LabDiet® 5K52/5K67
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
|
Live Mice
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $232.00 Female or Male Heterozygous for Smn1tm2Mrph
Price per Pair (US dollars $) Pair Genotype $296.00 Heterozygous for Smn1tm2Mrph x Wild-type for Smn1tm2Mrph $296.00 Wild-type for Smn1tm2Mrph x Heterozygous for Smn1tm2Mrph Standard Supply
Repository-Live. Repository-Live represents an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. Repository-live orders are treated as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
| Pricing for International shipping destinations |
|
Live Mice
Price per mouse (US dollars $) Gender Genotypes Provided Individual Mouse $301.60 Female or Male Heterozygous for Smn1tm2Mrph
Price per Pair (US dollars $) Pair Genotype $384.80 Heterozygous for Smn1tm2Mrph x Wild-type for Smn1tm2Mrph $384.80 Wild-type for Smn1tm2Mrph x Heterozygous for Smn1tm2Mrph Standard Supply
Repository-Live. Repository-Live represents an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. Repository-live orders are treated as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
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Standard Supply
Repository-Live. Repository-Live represents an exclusive set of over 1500 unique mouse models maintained at The Jackson Laboratory to support a vast array of research areas. The breeding colonies for Repository Strains provide mice for both large and small orders and fluctuate in size depending on current demand for each strain. Repository-live orders are treated as custom orders. Within 2 business days, we respond to each availability inquiry or order with various delivery options. Repository Strains typically are delivered at 4 to 8 weeks of age and will not exceed 12 weeks of age on the day of shipping.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 001800 FVB/NJ | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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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
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