Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Smn1tm3(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), SmnINV, SmnRes
Gene:	Smn1  Location: Chr13:100261360-100274198 bp, + strand  Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
Alliance:	Smn1tm3(SMN2/Smn1)Mrph page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

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:	86 strains or lines available

Original:	J:135423 Murphy A (Regeneron Pharmaceuticals, Inc.), Smn1 hybrid rescue allele, COIN (conditional inversion). Personal Communication. 2008;
All:	16 reference(s)