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

  title={Whole genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse.},
  author={Yael Hack and Elizabeth E Crabtree and Felipe Avila and Ruth Sutton and Robert A. Grahn and Annie Oh and Brian C. Gilger and Rebecca R. Bellone},
  journal={Equine veterinary journal},
BACKGROUND The only known genetic cause of congenital stationary night blindness (CSNB) in horses is a 1378 bp insertion in TRPM1. However, an affected Tennessee Walking Horse was found to have no copies of this variant. OBJECTIVES To identify the genetic cause for CSNB in an affected Tennessee Walking Horse. STUDY DESIGN Case report detailing a whole genome sequencing approach to identify a causal variant. METHODS A complete ophthalmic exam, including an electroretinogram (ERG), was… 

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  • S. Wright
  • Medicine
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  • 2019
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