In other species: domestic cat

Categories: Muscle phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601844 (gene) , 614491 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific name: Polymyopathy

Molecular basis: Dalton et al. (2022) "sequenced all 19 exons of the gene in one case, and two control samples, to identify possible mutations [in the comparative candidate gene WNK4] that may be associated with polymyopathy in free-ranging lions. Here, no mutations were detected in any of the exons sequenced. Our findings indicate that the WNK4 gene is not a major contributor to the condition in these lions."

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

Clinical features: Dalton et al. (2022): "Polyphasic skeletal muscle degeneration, necrosis and mineralization of skeletal muscle".