Unknown

Dataset Information

0

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.

SUBMITTER: Sancho-Pelluz J 

PROVIDER: S-EPMC3388123 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Sancho-Pelluz Javier J   Tosi Joaquin J   Hsu Chun-Wei CW   Lee Frances F   Wolpert Kyle K   Tabacaru Mirela R MR   Greenberg Jonathan P JP   Tsang Stephen H SH   Lin Chyuan-Sheng CS  

Molecular medicine (Cambridge, Mass.) 20120509

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 crea  ...[more]

Similar Datasets

Transcriptomics Autosomal dominant retinitis pigmentosa rhodopsin mutation Q344X drives specific alterations in gene transcription
2018-02-21 | GSE102247 | GEO
Unknown Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa.
| S-EPMC8478325 | biostudies-literature
Unknown Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa.
| S-EPMC7545001 | biostudies-literature
Unknown Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.
| S-EPMC4726306 | biostudies-literature
Unknown Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa.
| S-EPMC8701931 | biostudies-literature
Unknown Autosomal dominant retinitis pigmentosa rhodopsin mutant Q344X drives specific alterations in chromatin complex gene transcription.
| S-EPMC5815338 | biostudies-literature
Unknown Clinically Relevant Outcome Measures for the I307N Rhodopsin Mouse: A Model of Inducible Autosomal Dominant Retinitis Pigmentosa.
| S-EPMC6237214 | biostudies-other
Unknown Inner retinal preservation in the photoinducible I307N rhodopsin mutant mouse, a model of autosomal dominant retinitis pigmentosa.
| S-EPMC7187456 | biostudies-literature
Transcriptomics CRISPRi mediated treatment of dominant rhodopsin-associated retinitis pigmentosa.
2024-03-28 | GSE244786 | GEO
Transcriptomics Sex-specific attenuation of photoreceptor degeneration by reserpine in a rhodopsin P23H rat model of autosomal dominant retinitis pigmentosa
2024-09-27 | GSE278306 | GEO