Whole-genome sequencing identifies missense mutation inGRM6as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse
EQUINE VETERINARY JOURNAL, 53(2), 316–323.
author keywords: horse; congenital stationary night blindness (CSNB); genetics; genomics; Tennessee Walking Horse; GRM6
MeSH headings : Animals; Eye Diseases, Hereditary / genetics; Eye Diseases, Hereditary / veterinary; Genetic Diseases, X-Linked; Horse Diseases / genetics; Horses; Mutation, Missense; Myopia; Night Blindness / genetics; Night Blindness / veterinary; Receptors, Glutamate / genetics; Tennessee
TL;DR:
A likely causal recessive missense variant in metabotropic glutamate receptor 6 (GRM6) is identified, which alters GRM6 binding, and thus signaling from the retinal rod cell to the ON-bipolar cell, impairing vision in low light conditions.
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