Mus musculus
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA1129541 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:We report the single base pair analysis of the ocular transcriptome from wild type and BC027072 knockout animals. Comparison was analyzed to understand gene expression changes in a mouse model for early onset retinal degeneration which phenocopies a human form of autosomal recessive retinitis pigmentosa
2015-02-03 | GSE63810 | GEO
Project description:We report the single base pair analysis of the ocular transcriptome from wild type and BC027072 knockout animals. Comparison was analyzed to understand gene expression changes in a mouse model for early onset retinal degeneration which phenocopies a human form of autosomal recessive retinitis pigmentosa Eye mRNA profiles were generated from 3 week-old C57BL/6J and BC027072 -/- in triplicate and sequenced using the Illumina HiSeq 2500
2015-02-03 | E-GEOD-63810 | biostudies-arrayexpress
Project description:Rhodopsin P23H mutation is the most comment mutation causing autosomal dominant retinitis pigmentosa in the USA. The goal of this project is to compare the transcriptome changes of the Rhodopsin P23H knock-in mouse model of adRP to the wildtype control at different ages. The transcriptomic profile will help us understand the molecular events along the pathophysiology of reititis pigmentosa in this mouse model. We include the RNA seq data of Rhodopsin P23H heterozygous mouse retinas at 1, 3 and 6 months of age to compare with age-matched wildtype mouse retinas. N=3 and each sample is from an individual animal.
2024-12-01 | GSE281959 | GEO
Project description:Retinal degeneration is the leading cause of irreversible blindness. Retinitis pigmentosa (RP) is a genetically heterogenous group of diseases. In the United States, approximately one in 4000 individuals is affected. RP begins with the loss of night vision due to the loss of rod photoreceptor cells. The disease progresses slowly with the loss of peripheral vision, and eventually leads to complete debilitating and irreversible blindness. The first mutation associated with human RP was identified in the gene encoding rhodopsin, the G-protein coupled receptor of rod photoreceptor cells. Mutations within the rhodopsin gene account for significant portion of RP cases. Specifically, mutations of the proline at residue 347 in rhodopsin have been linked to human RP.
2011-09-08 | GSE31990 | GEO
Project description:Class I rhodopsin mutations are known for some of the most severe forms of vision impairments in dominantly inherited rhodopsin retinitis pigmentosa. They disrupt the VxPx transport signal, which is required for the proper localization of rhodopsin to the outer segments. While various studies have focused on the light-dependent toxicity of mutant rhodopsin, it remains unclear whether and how these mutations exert dominant-negative effects. Using the class I RhoQ344X rhodopsin knock-in mouse model, we characterized the expression of rhodopsin and other genes by RNA sequencing and qPCR. Those studies indicated that rhodopsin is the most prominently downregulated photoreceptor-specific gene in RhoQ344X/+ mice. Rhodopsin is downregulated significantly prior to the onset of rod degeneration, whereas downregulation of other phototransduction genes, transducinα, and Pde6α, occur after the onset and correlate with the degree of rod cell loss. Those studies indicated that the mutant rhodopsin gene causes downregulation of wild-type rhodopsin, imposing a mRNA-level dominant negative effect. Moreover, it causes downregulation of the mutant mRNA itself, mitigating the toxicity. The observed dominant effect is likely common among rhodopsin retinitis pigmentosa as we found a similar rhodopsin downregulation in the major class II rhodopsin mutant model, RhoP23H/+ mice, in which mutant rhodopsin is prone to misfold. Potentially due to mitigated toxicity by reduced rhodopsin expression, RhoQ344X/+ mice did not exhibit light-dependent exacerbation of rod degeneration, even after continuous exposure of mice for 5 days at 3000 lux. Thus, this study describes a novel form of dominant negative effect in inherited neurodegenerative disorders.
2025-09-07 | GSE293123 | GEO
Project description:To explore the mechanism associated with retinal degeneration and adeno-associated virus (AAV)-mediated gene therapy in rd10 mouse, a model of autosomal recessive retinitis pigmentosa (arRP) containing mutation of β subunit of the rod cGMP phosphodiesterase 6 (PDE6).
2022-04-29 | PXD033560 |
Project description:Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated decay. Some RP genes are expressed at detectable levels in leukocytes as well as in the retina. We designed a microarray-based method to find recessive RP genes based on low lymphoblast mRNA expression levels Keywords: Recessive mutations; mRNA expression; nonsense mediated-decay; retinitis pigmentosa; lymphocyte; Affymetrix genechip Human Genome U133Plus2.0.
2008-07-14 | GSE12086 | GEO
Project description:In Xenopus laevis knocking out rhodopsin genes by crispr/Cas9 is a model of Retinitis pigmentosa. In late tadpole (permissive stages), glial Muller cells proliferate to support a regeneration response in the retina. However in early tadpole (refractory stages) the proliferative response is absent and Muller cells remain quiescent. To identify features that support Muller cells proliferation upon retinal injury we devised an experiment comparing permissive and refractory stages retina in control and Rhodopsin-crispant embryos.
2025-02-02 | E-MTAB-13881 | biostudies-arrayexpress
Project description:As signalling organelles, primary cilia regulate their membrane G protein-coupled receptor (GPCR) content by ectocytosis, a process requiring localised actin dynamics at their tip to alter membrane shape.1,2 Mammalian photoreceptor outer segments comprise an expanse of folded membranes (discs) at the tip of highly-specialised connecting cilia (CC), in which photosensitive GPCRs like rhodopsin are concentrated. In an extraordinary feat of biology, outer segment discs are shed and remade daily.3 Defects in this process, due to genetic mutations, cause retinitis pigmentosa (RP), an untreatable, blinding disease. The mechanism by which photoreceptor cilia generate outer segments is therefore fundamental for vision yet poorly understood. Here, we show the membrane deformation required for outer segment disc genesis is driven by dynamic changes in the actin cytoskeleton in a process akin to ectocytosis. Further, we show RPGR, a leading causal RP gene, regulates activity of actin binding proteins crucial to this process. Disc genesis is compromised in Rpgr mouse models, slowing the actin dynamics required for timely disc formation, leading to aborted membrane shedding as ectosome-like vesicles, photoreceptor death and visual loss. Manipulation of actin dynamics partially rescues the phenotype, suggesting this pathway could be targeted therapeutically. These findings help define how actin-mediated dynamics control outer segment turnover.
2024-05-08 | PXD038015 | Pride