Smn1^tm2Cdid
Targeted Allele Detail

Summary

• Symbol: Smn1^tm2Cdid
• Name: survival motor neuron 1; targeted mutation 2, Christine DiDonato
• MGI ID: MGI:5290070
• Synonyms: Smn^C-T-Neo
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^tm2Cdid page

Mutation origin

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

Mutation description

• 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)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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: 87 strains or lines available

References

• 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)