| Primary Identifier | MGI:1856008 | Allele Type | Spontaneous |
| Gene | Myo5a | Inheritance Mode | Recessive |
| Strain of Origin | B10.D2-H2<d>/nSnJ | Is Recombinase | false |
| Is Wild Type | false |
| description | Myo5ad-n, dilute-neurological, recessive. This mutation arose in the B10.D2/nSnJ congenic strain (J:16313). Homozygotes display a neuromuscular disorder, but the condition is less severe than in Myo5ad-l homozygotes (M.T. Davisson, 1996, personal communication). |
| molecularNote | Genomic sequence analysis showed this mutation results from a c.5518C>T transition that introduces a premature stop codon at glutamine 1840 (p.Q1840*). mRNA levels are not significantly affected; however protein levels are dramatically reduced. |
