Smn1^{tm3(SMN2/Smn1)Mrph}
Targeted Allele Detail

Summary

• Symbol: Smn1^{tm3(SMN2/Smn1)Mrph}
• Name: survival motor neuron 1; targeted mutation 3, Andrew Murphy
• MGI ID: MGI:3794199
• Synonyms: hybrid rescue allele, Smn1 COIN (conditional inversion), Smn^INV, Smn^Res
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^{tm3(SMN2/Smn1)Mrph} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:135423
• Parent Cell Line: F1H4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NTac)F1

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, No functional change)
• Mutation: Insertion
• Mutation details: 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. (J:135423)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Smn1 Mutation: 87 strains or lines available

References

• Original: J:135423 Murphy A (Regeneron Pharmaceuticals, Inc.), Smn1 hybrid rescue allele, COIN (conditional inversion). Personal Communication. 2008
• All: 18 reference(s)