Scn8a^dmu
Spontaneous Allele Detail

Summary

• Symbol: Scn8a^dmu
• Name: sodium channel, voltage-gated, type VIII, alpha; degenerating muscle
• MGI ID: MGI:2429654
• Synonyms: dmu
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^dmu page

Mutation origin

• Strain of Origin: (C57BL/6 x C3H)F1

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: Genetic complementation testing between the dmu mouse and Scn8a^med mice demonstrated that these two mutations are allelic. Transcript levels from this gene are greatly reduced in homozygous mice. This mutant contains a single nucleotide deletion in exon 10A (position 1538 in GenBank NM_011323). (J:98511)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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 Scn8a Mutation: 99 strains or lines available

References

• Original: J:71615 De Repentigny Y, et al., Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a. Hum Mol Genet. 2001 Aug 15;10(17):1819-27
• All: 4 reference(s)