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Article

Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II.

Genomics - 20 Jul 1995

Ma J, Norton J C, Allen A C, Burns J B, Hasel K W, Burns J L, Sutcliffe J G, Travis G H

Abstract excerpt

Retinal degeneration slow (rds) is a semidominant mutation of mice that causes dysplasia and degeneration of rod and cone photoreceptors. Mutations in RDS, the human ortholog of the rds gene, are responsible for several inherited retinal dystrophies including a subset of retinitis pigmentosa. The normal rds locus encodes rds/peripherin, an integral membrane glycoprotein present in outer segment discs. Genomic...

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PMID: 8530028
DOI: 10.1006/geno.1995.1133

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Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II.PMID 8530028Read ↗

The role of the peripherin/RDS gene in retinal dystrophies.Semantic proximity Read ↗

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.Semantic proximity Read ↗

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The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic miceSemantic proximity Read ↗

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

Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors.Semantic proximity Read ↗

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.Semantic proximity Read ↗

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.Semantic proximity Read ↗

The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.Semantic proximity Read ↗

Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice.Semantic proximity Read ↗

Analysis of the rds/peripherin.rom1 complex in transgenic photoreceptors that express a chimeric protein.Semantic proximity Read ↗

The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.Semantic proximity Read ↗

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