From: Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies
Mouse model | Mutation/protein product | Phenotype | Ref |
---|---|---|---|
dy/dy | Unknown spontaneous mutation/reduced expression of seemingly normal α2 chain | Lethal within 6 months of age. Moderate muscular dystrophy; peripheral neuropathy; defective central nervous system myelination; hearing loss; aberrant thymocyte development | |
dy2J/dy2J | Spontaneous mutation in LN domaina/slightly reduced expression of truncated α2 chain devoid of LN domain | Normal lifespan. Mild muscular dystrophy; peripheral neuropathy | |
dyW/dyW | Knock- out/severely reduced expression of truncated α2 chain devoid of LN domain | Lethal at 10 to 15 weeks of age. Severe muscular dystrophy; peripheral neuropathy | |
dy3K/dy3K | Knock-out/complete deficiency | Lethal at 4 weeks of age. Severe muscular dystrophy; peripheral neuropathy; impaired spermatogenesis; defective odontoblast differentiation | |
dynmj417/dynmf417 | N-ethyl-N-nitrosourea-induced point mutation in LN domain/normal levels | Normal lifespan. Mild muscular dystrophy; peripheral neuropathy | [87] |
dyPas/dyPas(now extinct) | Spontaneous retrotransposal insertion/severe deficiency | Died at 13 weeks of age. Severe muscular dystrophy; peripheral neuropathy | [126] |