Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing.

Vision research - 15 Mar 2012

Muradov Hakim, Boyd Kimberly K, Kerov Vasily, Artemyev Nikolai O

Abstract excerpt

Mutations in the key rod phototransduction enzyme phosphodiesterase 6 (PDE6) are known to cause recessive retinitis pigmentosa in humans. Mouse models of mutant PDE6 represent a common approach to understanding the mechanisms of visual disorders related to PDE6 defects. Mutation N605S in the PDE6B subunit is linked to atypical retinal degeneration 3 (atrd3) in mice. We examined PDE6 in atrd3 mice and an atrd3...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cyclic Nucleotide Phosphodiesterases, Type 6
Share to Down-Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Transgenic

Share to Real-Time Polymerase Chain Reaction

Share to Retinal Degeneration

Share to RNA Splicing

Share to Xenopus laevis

Source

Open in PubMed Open full text

Identifiers

PMID: 22326271
DOI: 10.1016/j.visres.2012.01.017
PMCID: PMC3285400

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing.PMID 22326271Read ↗

Functional rescue of degenerating photoreceptors in mice homozygous for a hypomorphic cGMP phosphodiesterase 6 b allele (Pde6bH620Q).Semantic proximity Read ↗

Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene.Semantic proximity Read ↗

Review: the history and role of naturally occurring mouse models with Pde6b mutations.Semantic proximity Read ↗

Functional asymmetry and essential structural roles of PDE6α and PDE6β subunits in rod-photoreceptor integrity.Semantic proximity Read ↗

A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.Semantic proximity Read ↗

Retinitis pigmentosa: impact of differentPde6apoint mutations on the disease phenotypeSemantic proximity Read ↗

Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.Semantic proximity Read ↗

A nonhuman primate model of inherited retinal diseaseSemantic proximity Read ↗

Genotype-phenotype correlation of mouse pde6b mutations.Semantic proximity Read ↗

A mutation in the cone-specific pde6 gene causes rapid cone photoreceptor degeneration in zebrafish.Semantic proximity Read ↗

Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models.Semantic proximity Read ↗

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.