Smn1^tm1.1Dscd
Targeted Allele Detail

Summary

• Symbol: Smn1^tm1.1Dscd
• Name: survival motor neuron 1; targeted mutation 1.1, Dawn S Chandler
• MGI ID: MGI:4836979
• Synonyms: Smn C>T
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^tm1.1Dscd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:164889
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 7 was replaced with one in which a C to T transition, mimicking a mutation found in proximal spinal muscular atrophy (SMA) patients, results in exclusion of exon 7 from the premRNA. An FRT flanked neo cassette inserted upstream of exon 7 and was removed by flp mediated recombination. Reduced protein expression was confirmed by western blot analysis on kidney, liver, brain, spinal cord, and quadricep extracts. (J:164889)

Disease models

Find Mice (IMSR)

• 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

References

• Original: J:164889 Gladman JT, et al., A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. Hum Mol Genet. 2010 Nov 1;19(21):4239-52
• All: 1 reference(s)