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| In this hybrid allele, exon 7 of Smn1 (survival motor neuron 1) is replaced with the equivalent exon from human SMN2 (survival of motor neuron 2, centromeric), and is skipped in approximately 90% of the processed mRNA. Further characterization is currently in progress. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy. | |||||||||||||||||||
- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
Description
Strain Information
Type Congenic; 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) 17-OCT-08 Species laboratory mouse Generation N7 (18-MAR-11)
Generation DefinitionsDonating Investigator IMR Colony, The Jackson Laboratory Description
In this hybrid allele, exon 7 of Smn1 (survival motor neuron 1) is replaced with the equivalent exon from human SMN2 (survival of motor neuron 2, centromeric), and is skipped in approximately 90% of the processed mRNA. Further characterization is currently in progress. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy.Importation of this model was supported by the Spinal Muscular Atrophy Foundation.
Development
This targeted mutation, Smn allele B, is a hybrid Smn1 (survival motor neuron 1) allele in which a 2.2 kb segment of mouse genome containing exons 7 and 8 of the mouse Smn1 (survival motor neuron 1) gene was replaced with a 1.3 kb fragment of human genomic DNA containing exons 7 and 8 of the human SMN2 (survival of motor neuron 2, centromeric) gene. A selection cassette located downstream from the human SMN2 polyadenylation signal was removed by FLPe expression in ES cells leaving a FRT site at the downstream junction between human and mouse DNA. Because exon 7 is derived from human SMN2, it is skipped in approximately 90% of the processed mRNA derived from the hybrid allele. The 129S6/SvEvTac X C57BL/6Tac hybrid derived F1H4 ES cell line was used. The mice were crossed to C57BL/6J once, and then were backcrossed to FVB/NJ using a speed congenic protocol.
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)
008453 B6.129-Smn1tm4(SMN2)Mrph/J 008383 B6;129-Smn1tm4(SMN2)Mrph/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.
Smn1tm4(SMN2)Mrph/Smn1+
involves: 129S6/SvEvTac * C57BL/6NTac
- no phenotypic analysis
- *normal* no phenotypic analysis
- no phenotypic analysis available (MGI Ref ID J:135424)
Smn1tm4(SMN2)Mrph/Smn1tm4(SMN2)Mrph
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:
Neurobiology Research
Spinal Muscular Atrophy (SMA)
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Smn1tm4(SMN2)Mrph | ||
|---|---|---|---|
| Allele Name | targeted mutation 4, Andrew Murphy | ||
| Allele Type | Targeted (knock-in) | ||
| Common Name(s) | Smn allele B; | ||
| Mutation Made By | Andrew Murphy, Regeneron Pharmaceuticals, Inc. | ||
| Strain of Origin | (129S6/SvEvTac x C57BL/6NTac)F1 | ||
| ES Cell Line Name | F1H4 | ||
| ES Cell Line Strain | (129S6/SvEvTac x C57BL/6NTac)F1 | ||
| Expressed Gene | SMN2, survival of motor neuron 2, centromeric, human | ||
| Molecular Note | A 2.2 kb segment of mouse genome containing exons 7 and 8 of the mouse Smn1 (survival motor neuron 1) gene was replaced with a 1.3 kb fragment of human genomic DNA containing exons 7 and 8 of the human SMN2 (survival of motor neuron 2, centromeric) gene.A selection cassette located downstream from the human SMN2 polyadenylation signal was removed by FLPe expression in ES cells leaving a FRT site at the downstream junction between human and mouse DNA. Because exon 7 is derived from human SMN2, it is skipped in approximately 90% of the processed mRNA derived from the hybrid allele. [MGI Ref ID J:135424] | ||
| 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; | ||
Genotyping
Genotyping Information
Genotyping Protocols
Smn1tm4(SMN2)Mrphalternate1, Separated PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Murphy A (Regeneron Pharmaceuticals, Inc.. 2008. Smn allele B. Personal Communication :. [MGI Ref ID J:135424]
Additional References
Smn1tm4(SMN2)Mrph 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
Breeding & Husbandry When maintaining a live colony, these mice can be bred as heterozygotes. Mating System Heterozygote x +/+ sibling (Female x Male) 17-OCT-08 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 Smn1tm4(SMN2)Mrph
Price per Pair (US dollars $) Pair Genotype $296.00 Heterozygous for Smn1tm4(SMN2)Mrph x Wild-type for Smn1tm4(SMN2)Mrph $296.00 Wild-type for Smn1tm4(SMN2)Mrph x Heterozygous for Smn1tm4(SMN2)Mrph 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 Smn1tm4(SMN2)Mrph
Price per Pair (US dollars $) Pair Genotype $384.80 Heterozygous for Smn1tm4(SMN2)Mrph x Wild-type for Smn1tm4(SMN2)Mrph $384.80 Wild-type for Smn1tm4(SMN2)Mrph x Heterozygous for Smn1tm4(SMN2)Mrph 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 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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