Nemaline Myopathy

Gene: NEB

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, NEB gene; G>T, p.(S8042 STOP)

Medical system: Muscular

Breeds: American Bulldog

References:

OMIA link: [2137-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Evans JM, Cox ML, Huska J, et al. (2016) Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. Mamm Genome 27:495-502. [pubmed/27215641]