Mapping Data

Experiment

• Experiment
  TEXT
• Chromosome
  15
• Reference
  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
• ID
  MGI:2152447

Genes

Gene	Allele	Assay Type
Scn8a	Scn8a^dmu	visible phenotype
D15Mit105
D15Mit171
D15Mit161
D15Mit42
D15Mit15
D15Mit35
Hoxc8		reported elsewhere
Cacnb3		reported elsewhere
Wnt1		reported elsewhere

Notes

• Experiment
  23 microsatellite markers were typed in animals from a (dmu/+ x DBA/2J)F2 intercross to map the gene responsible for muscle degeneration. The recessive dmu mutation arose on a C57BL6J and C3H/HeJ mixed background and results in progressive muscular degeneration and death within 1 month of age. 55 dmu/dmu homozygous animals were used for the genetic analysis. The dmu locus mapped to distal mouse Chromosome 15 from 47.9 cM - telomere near D15Mit35 (P = 7.3 x 10^-7). Several genes map to this region: Hoxc8, Cacnb3, Wnt1, and Scn8a. Complementation analysis with Scn8a gave strong evidence of its role in muscle degeneration. Authors propose dmu is an allele of Scn8a. The dmu locus is syntenic to human Chromosome 12q13, a region associated with scapuloperoneal muscular dystrophy (SPMD) in humans.