Scnm1^s
Spontaneous Allele Detail

Summary

• Symbol: Scnm1^s
• Name: sodium channel modifier 1; susceptibility
• MGI ID: MGI:2674104
• Synonyms: Scnm1^B, Scnm1^R187X, Scnm1^rs13474321-A
• Gene: Scnm1 Location: Chr3:95037030-95041285 bp, - strand Genetic Position: Chr3, 40.74 cM, cytoband F2
• Alliance: Scnm1^s page

Mutation origin

• Strain of Origin: multiple strains

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The A variant (T on negative gene strand) of SNP rs13474321 in this putative splice factor gene has been identified in the sequence of the C57BL/6J, C57BL/6NJ and most other C57 strains and closely related C58 strains. All other tested strains have the non-deleterious G variant. The resulting premature stop codon at arginine 187 (p.R187*) removes the C-terminal 43 amino acids. This substitution also destroys a predicted exon splice enhancer region and results in a unique transcript that lacks exon 6. Thus, mice are predicted to produce two abnormal proteins, one that is prematurely truncated at residue 186 and a smaller 164 residue protein. The R187* mutation influences the amount of correct splicing of Scn8a transcript in med^J mice which directly correlates to the severity of the disease. (J:84898)
• Inheritance: Recessive

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 Scnm1 Mutation: 17 strains or lines available

References

• Original: J:53340 Sprunger LK, et al., Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Hum Mol Genet. 1999 Mar;8(3):471-9
• All: 7 reference(s)