Allele frequency of nonsense mutation responsible for hereditary nephropathy in English cocker spaniel dogs
Sign Up to like & getrecommendations! Published in 2020 at "Veterinary and Animal Science"
DOI: 10.1016/j.vas.2020.100114
Abstract: Hereditary nephropathy is a primary progressive glomerular disease in dogs associated with the c.115A>T mutation in the COL4A4 gene in English cocker spaniel (ECS) dogs. The disease is inherited in an autosomal recessive manner. Hereditary… read more here.
Keywords: cocker spaniel; mutation; english cocker; hereditary nephropathy ... See more keywords
The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels.
Sign Up to like & getrecommendations! Published in 2023 at "Animal genetics"
DOI: 10.1111/age.13312
Abstract: Paradoxical pseudomyotonia has previously been described in the English Cocker Spaniel (ECS) and English Springer Spaniel (ESS) breeds, without the identification of potentially causative variants. This disease is characterised by episodes of exercise-induced generalised myotonic-like… read more here.
Keywords: paradoxical pseudomyotonia; english cocker; 126c cys42ter; cys42ter slc7a10 ... See more keywords