Exclusion of RPGRIP1 ins44 from Primary Causal Association with Early-Onset Cone–Rod Dystrophy in Dogs

摘要

Purpose.Canine cone–rod dystrophy 1 (cord1) has been previously mapped to CFA15, and a homozygous 44-bp insertion in exon 2 (Ins44) of canine RPGRIP1 (cRPGRIP1^Ins/Ins) has been associated with the disease. However, from the recent identification of a significant discordance in genotype–phenotype association, we have reexamined the role of cRPGRIP1 in cord1.