OMIA 001759-9689 : Hypokalaemic periodic paralysis in Panthera leo |
In other species:
domestic cat
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
601844 (gene)
,
614491 (trait)
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."
Clinical features:
Dalton et al. (2022): "Polyphasic skeletal muscle degeneration, necrosis and mineralization of skeletal muscle".
Reference
2022 | Dalton, D.L., Pretorius, C., de Klerk-Lorist, L.M., Reininghaus, B., Buss, P., Mitchell, E.P. : | |
Absence of 2899C<T Mutation in the WNK4 Gene in a Free-Ranging Lion (<i>Panthera leo</i>) with Polymyopathy. Animals (Basel) 12:, 2022. Pubmed reference: 35158718. DOI: 10.3390/ani12030389. |
Edit History
- Created by Frank Nicholas on 20 Feb 2022