Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa. Mol Med 2012 May 09;18(1):549-55
Date
01/19/2012Pubmed ID
22252712Pubmed Central ID
PMC3388123DOI
10.2119/molmed.2011.00475Scopus ID
2-s2.0-84862225379 (requires institutional sign-in at Scopus site) 22 CitationsAbstract
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.
Author List
Sancho-Pelluz J, Tosi J, Hsu CW, Lee F, Wolpert K, Tabacaru MR, Greenberg JP, Tsang SH, Lin CSMESH terms used to index this publication - Major topics in bold
AnimalsDisease Models, Animal
Gene Order
Gene Targeting
Genes, Dominant
Humans
Mice
Mice, Transgenic
Mutation
Protein Transport
Retinal Rod Photoreceptor Cells
Retinitis Pigmentosa
Rhodopsin
