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Whole-genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse.

Yael L HackElizabeth E CrabtreeFelipe AvilaRoger B SuttonRobert GrahnAnnie OhBrian GilgerRebecca R Bellone
Published in: Equine veterinary journal (2020)
We identified a likely causal recessive missense variant in GRM6. Based on protein modelling, this variant alters GRM6 binding, and thus signalling from the retinal rod cell to the ON-bipolar cell, impairing vision in low light conditions. Given the 10% population allele frequency, it is likely that additional affected horses exist in this breed and further work is needed to identify and examine these animals.
Keyphrases
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