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| This allele is a functional null in the non-recombined state and homozygous animals are embryonic lethal. This allele is engineered to revert to a fully functional Smn1 allele upon Cre-mediated recombination. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy. | |||||||||||||||||||
- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- 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 +/+ sibling x Heterozygote (Female x Male) 11-NOV-09 Species laboratory mouse Generation N10 (17-MAR-11)
Generation DefinitionsDonating Investigator IMR Colony, The Jackson Laboratory Description
This allele is a functional null in the non-recombined state and homozygous animals are embryonic lethal. This allele is engineered to revert to a fully functional Smn1 allele upon Cre-mediated recombination. 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
Exons 7 and 8 of the mouse Smn1 (survival motor neuron 1) gene and a several hundred base pairs of flanking sequence were replaced with a fragment containing, in order: 1) an inverted lox71 site; 2) exon 7 from the human SMN2 (survival of motor neuron 2, centromeric) gene flanked by several hundred base pairs of intron sequence; 3) an inverted copy of mouse Smn1 exon 7 flanked by several hundred base pairs of intron sequence; 4) a lox66 site; 5) an FRT site remnant from a deleted selection cassette; and 6) human SMN2 exon 8 including the 3'UTR and polyA signal with several hundred base pairs of flanking sequence. The engineered allele expresses a hybrid Smn1 gene containing mouse Smn1 exons 1 through 6 and human SMN2 exons 7 and 8. The human SMN2 exon 7 is skipped in the majority of mRNA derived from the hybrid gene due to a single base pair difference in human SMN2 exon 7, compared to human SMN1 exon 7. Following Cre-mediated irreversible inversion of the fragment bordered by the lox71 and lox66 sites, the allele is "rescued" into a format that contains mouse Smn1 exons 1 through 7 and human SMN2 exon 8. Because the mouse Smn1 exon 8 is efficiently spliced, the majority of the mRNA from the rescue allele after Cre-mediated inversion contains mouse Smn1 exon 7. 129S6/SvEvTac and C57BL/6Tac derived F1H4 ES cells were used. The mice were then backcrossed to C57BL/6J for at least 5 generations.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
Related Strains
Spinal Muscular Atrophy (SMA) Models
View Spinal Muscular Atrophy (SMA) Models (42 strains)
007964 FVB.Cg-Smn1tm3(SMN2/Smn1)Mrph/J 007951 STOCK Smn1tm3(SMN2/Smn1)Mrph Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb/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
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Smn1tm3(SMN2/Smn1)Mrph/Smn1tm3(SMN2/Smn1)Mrph
involves: 129S6/SvEvTac * C57BL/6NTac
- mortality/aging
- complete prenatal lethality
- homozygotes die during development (MGI Ref ID J:135423)
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 | Smn1tm3(SMN2/Smn1)Mrph | ||
|---|---|---|---|
| Allele Name | targeted mutation 3, Andrew Murphy | ||
| Allele Type | Targeted (Floxed/Frt) | ||
| Common Name(s) | Smn1 COIN (conditional inversion); SmnRes; hybrid rescue allele; | ||
| Mutation Made By | Nicole Graiff, Regeneron | ||
| Strain of Origin | (129 x C57BL/6)F1 | ||
| ES Cell Line Name | F1H4 | ||
| ES Cell Line Strain | (129 x C57BL/6)F1 | ||
| 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; | ||
| Molecular Note | Exons 7 and 8 of the mouse Smn1 (survival motor neuron 1) gene and a several hundred base pairs of flanking sequence were replaced with a fragment containing, in order: 1) an inverted lox71 site; 2) exon 7 from the human SMN2 (survival of motor neuron 2,centromeric) gene flanked by several hundred base pairs of intron sequence; 3) an inverted copy of mouse Smn1 exon 7 flanked by several hundred base pairs of intron sequence; 4) a lox66 site; 5) an FRT site remnant from a deleted selection cassette; and 6) human SMN2 exon 8 including the 3'UTR and polyA signal with several hundred base pairs of flanking sequence. The engineered allele expresses a hybrid Smn1 gene containing mouse Smn1 exons 1 through 6 and human SMN2 exons 7 and 8. The human SMN2 exon 7 is skipped in the majority of mRNA derived from the hybrid gene due to a single base pair difference in human SMN2 exon 7, compared to human SMN1 exon 7. Following Cre-mediated irreversible inversion of the fragment bordered by the lox71 and lox66 sites, the allele is "rescued" into a format that contains mouse Smn1 exons 1 through 7 and human SMN2 exon 8. Because the mouse Smn1 exon 8 is efficiently spliced, the majority of the mRNA from the rescue allele after Cre-mediated inversion contains mouse Smn1 exon 7. [MGI Ref ID J:135423] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Smn1tm3(SMN2/Smn1)Mrph, Melt Curve Analysis
Smn1tm6(SMN2)Mrph D Allele, Melt Curve Analysis
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Murphy A (Regeneron Pharmaceuticals, Inc.). 2008. Smn1 hybrid rescue allele, COIN (conditional inversion) Personal Communication :. [MGI Ref ID J:135423]
Additional References
Smn1tm3(SMN2/Smn1)Mrph relatedLutz 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]
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. Homozygotes are embryonic lethal. Mating System +/+ sibling x Heterozygote (Female x Male) 11-NOV-09 Diet Information LabDiet® 5K52/5K67
Purchasing information
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Live Mice
Price (US dollars $) Gender Genotypes Provided Individual Mouse $261.00 Female or Male Heterozygous for Smn1tm3(SMN2/Smn1)Mrph
Pairs /Price (US dollars $) Pair Genotype $321.00 Heterozygous for Smn1tm3(SMN2/Smn1)Mrph x Wild-type for Smn1tm3(SMN2/Smn1)Mrph $321.00 Wild-type for Smn1tm3(SMN2/Smn1)Mrph x Heterozygous for Smn1tm3(SMN2/Smn1)Mrph Standard Supply
Repository-Live. The Repository Strains represent 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. We treat orders for these strains 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 |
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Live Mice
Price (US dollars $) Gender Genotypes Provided Individual Mouse $339.30 Female or Male Heterozygous for Smn1tm3(SMN2/Smn1)Mrph
Pairs /Price (US dollars $) Pair Genotype $417.30 Heterozygous for Smn1tm3(SMN2/Smn1)Mrph x Wild-type for Smn1tm3(SMN2/Smn1)Mrph $417.30 Wild-type for Smn1tm3(SMN2/Smn1)Mrph x Heterozygous for Smn1tm3(SMN2/Smn1)Mrph Standard Supply
Repository-Live. The Repository Strains represent 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. We treat orders for these strains 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. The Repository Strains represent 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. We treat orders for these strains 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.
General Supply Notes
- This strain is included in the Induced Mutant Resource Colony collection.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 000664 C57BL/6J | ||
| 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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