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

Symbol:	Smn1tm1Cdid
Name:	survival motor neuron 1; targeted mutation 1, Christine DiDonato
MGI ID:	MGI:4836030
Synonyms:	Smn2B-Neo
Gene:	Smn1  Location: Chr13:100261360-100274198 bp, + strand  Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
Alliance:	Smn1tm1Cdid page

Germline Transmission:	Earliest citation of germline transmission: J:176267
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129/SvJ

Allele Type:    Targeted (Hypomorph, Modified regulatory region) Mutations:    Insertion, Nucleotide substitutions   Mutation details: A targeting vector was used to insert a 3 nucleotide mutation (gga-TTT) in exon 7 of Smn1, within an important splice enhancer element, and a floxed Neo cassette (in the opposite orientation to transcription) in intron 7. The mutation changes the exon splice enhancer into an exon splice silencer, thus greatly reducing the inclusion of exon 7 in transcripts, which results in producing Smn2-like transcripts. (J:176267)

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

In Mice Carrying this Mutation:

5 assay results

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Smn1 Mutation:	86 strains or lines available

Original:	J:176267 Hammond SM, et al., Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late. PLoS One. 2010;5(12):e15887
All:	4 reference(s)