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Article

Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa.

Molecular medicine (Cambridge, Mass.) - 9 May 2012

Sancho-Pelluz Javier, Tosi Joaquin, Hsu Chun-Wei, Lee Frances, Wolpert Kyle, Tabacaru Mirela R, Greenberg Jonathan P, Tsang Stephen H, Lin Chyuan-Sheng

Abstract excerpt

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...

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Identifiers

PMID: 22252712
DOI: 10.2119/molmed.2011.00475
PMCID: PMC3388123

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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