Article
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.
PloS one - 28 Mar 2011
Buch Prateek K, Mihelec Marija, Cottrill Phillippa, Wilkie Susan E, Pearson Rachael A, Duran Yanai, West Emma L, Michaelides Michel, Ali Robin R, Hunt David M
Abstract excerpt
Cone dystrophy 3 (COD3) is a severe dominantly inherited retinal degeneration caused by missense mutations in GUCA1A, the gene encoding Guanylate Cyclase Activating Protein 1 (GCAP1). The role of GCAP1 in controlling cyclic nucleotide levels in photoreceptors has largely been elucidated using knock-out mice, but the disease pathology in these mice cannot be extrapolated directly to COD3 as this involves altered,...
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