Article
Redundant contribution of a Transient Receptor Potential cation channel Member 1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness.
BMC veterinary research - 21 Jun 2016
Scott Michelle L, John Emily E, Bellone Rebecca R, Ching John C H, Loewen Matthew E, Sandmeyer Lynne S, Grahn Bruce H, Forsyth George W
Abstract excerpt
BACKGROUND: Congenital stationary night-blindness (CSNB) is a recessive autosomal defect in low-light vision in Appaloosa and other horse breeds. This condition has been mapped by linkage analysis to a gene coding for the Transient Receptor Potential cation channel Member 1 (TRPM1). TRPM1 is normally expressed in the ON-bipolar cells of the inner nuclear layer of the retina. Down-regulation of TRPM1 expression in...
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