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Article

The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.

Human molecular genetics - 1 Dec 2014

Stuck Michael W, Conley Shannon M, Naash Muna I

Abstract excerpt

Mutations in the photoreceptor-specific gene peripherin-2 (PRPH-2, also known as retinal degeneration slow/RDS) cause incurable retinal degeneration with a high degree of phenotypic variability. Patient phenotypes range from retinitis pigmentosa to various forms of macular and pattern dystrophy. Macular and pattern dystrophy in particular are associated with complex, poorly understood disease mechanisms, as...

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Source

Open in PubMed Open full text

Identifiers

PMID: 25001182
DOI: 10.1093/hmg/ddu345
PMCID: PMC4222364

Genes

RPE
PRPH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.PMID 25001182Read ↗

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Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.Semantic proximity Read ↗

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