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

Symbol:	Smn1tm2Cdid
Name:	survival motor neuron 1; targeted mutation 2, Christine DiDonato
MGI ID:	MGI:5290070
Synonyms:	SmnC-T-Neo
Gene:	Smn1  Location: Chr13:100261360-100274198 bp, + strand  Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
Alliance:	Smn1tm2Cdid page

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

Allele Type:    Targeted (Hypomorph) Mutations:    Insertion, Single point mutation   Mutation details: Exon 7 was replaced with one in which a C to T transition at position 6 of this exon. A floxed pgk-neo selection cassette was inserted about 180 bp distal to exon 7 in the antisense orientation. Analysis of protein expression indicates very low levels of Smn1 and that this is a hypomorphic allele. (J:176267)

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain 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:	1 reference(s)