In other species: sheep

Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 232600 (trait) , 608455 (gene)

Links to MONDO diseases:

• MONDO:0009293: glycogen storage disease V

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1996

Cross-species summary: McArdle disease

Species-specific name: Myophosphorylase deficiency

Species-specific description: The first occurrence of this disorder in any domestic species was reported by Angelos et al. (1995), in Charolais cattle.

Inheritance: As reported by Angelos et al. (1995), six calves from a single Charolais herd were diagnosed after one of the calves was presented to the Veterinary Medical Teaching Hospital of the School of Veterinary Medicine at the University of California, Davis. The sire and dam of each of the six calves had a common ancestor. The data were consistent with autosomal recessive inheritance.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Tsujino et al. (1996) showed that the disorder in these Charolais cattle is due to a missense mutation in codon 489 of the gene for myophosphorylase.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: History of recumbency following forced exercise; severe rhabdmyolysis; dehydration; and electrolyte imbalance.

Genetic testing: A PCR test could easily be devised from the information provided by Tsujino et al. (1996)

Breed: Charolais (Cattle) (VBO_0000177).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: