Smn1^tm1.1Cdid
Targeted Allele Detail

Summary

• Symbol: Smn1^tm1.1Cdid
• Name: survival motor neuron 1; targeted mutation 1.1, Christine DiDonato
• MGI ID: MGI:4836034
• Synonyms: Smn^2B, Smn2B- no Neo
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^tm1.1Cdid page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:183080
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvJ

Mutation description

• 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. Cre mediated recombination deleted the neo cassette, which disrupted efficient transcription of Smn1. (J:176267, J:183080)

Expression

In Mice Carrying this Mutation:

5 assay results

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Smn1 Mutation: 86 strains or lines available

References

• Original: J:183080 Gogliotti RG, et al., Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci. 2012 Mar 14;32(11):3818-29
• All: 14 reference(s)