title: Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa.
abstract: Rhodopsin is the G protein-coupled receptor in charge of initiating signal transduction in rod photoreceptor cells upon the arrival of the photon. D190N (Rho(D190n)), a missense mutation in rhodopsin, causes autosomal-dominant retinitis pigmentosa (adRP) in humans. Affected patients present hyperfluorescent retinal rings and progressive rod photoreceptor degeneration. Studies in humans cannot reveal the molecular processes causing the earliest stages of the condition, thus necessitating the creation of an appropriate animal model. A knock-in mouse model with the D190N mutation was engineered to study the pathogenesis of the disease. Electrophysiological and histological findings in the mouse were similar to those observed in human patients, and the hyperfluorescence pattern was analogous to that seen in humans, confirming that the D190N mouse is an accurate model for the study of adRP.
authors.affiliation: Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
authors.forename: Javier
authors.initials: J
authors.lastname: Sancho-Pelluz
authors.forename: Joaquin
authors.initials: J
authors.lastname: Tosi
authors.forename: Chun-Wei
authors.initials: CW
authors.lastname: Hsu
authors.forename: Frances
authors.initials: F
authors.lastname: Lee
authors.forename: Kyle
authors.initials: K
authors.lastname: Wolpert
authors.forename: Mirela R
authors.initials: MR
authors.lastname: Tabacaru
authors.forename: Jonathan P
authors.initials: JP
authors.lastname: Greenberg
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
authors.forename: Chyuan-Sheng
authors.initials: CS
authors.lastname: Lin
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D023061:Gene Order; D018390:Gene Targeting; D005799:Genes, Dominant; D006801:Humans; D051379:Mice / Q000235:genetics*; D008822:Mice, Transgenic; D009154:Mutation; D021381:Protein Transport; D017948:Retinal Rod Photoreceptor Cells / Q000378:metabolism / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics* / Q000378:metabolism
chemical_list: D012243:Rhodopsin