Article
Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.
Molecular vision - 11 Nov 2009
Miyadera Keiko, Kato Kumiko, Aguirre-Hernández Jesús, Tokuriki Tsuyoshi, Morimoto Kyohei, Busse Claudia, Barnett Keith, Holmes Nigel, Ogawa Hiroyuki, Sasaki Nobuo, Mellersh Cathryn S, Sargan David R
Abstract excerpt
PURPOSE: Previously, a 44 bp insertion in exon 2 of retinitis pigmentosa GTPase interacting protein 1 (RPGRIP1) was identified as the cause of cone-rod dystrophy 1 (cord1), a recessive form of progressive retinal atrophy (PRA) in the Miniature Longhaired Dachshund (MLHD), a dog model for Leber congenital amaurosis. The cord1 locus was mapped using MLHDs from an inbred colony with a homogeneous early onset disease...
Topics
- Age Distribution
- Animals
- Animals, Domestic
- Base Pairing
- Breeding
- Case-Control Studies
- Dog Diseases
- Dogs
- Electrophoresis, Capillary
- Electroretinography