RGD Reference Report - Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. - Rat Genome Database

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Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

Authors: Kajiwara, K  Hahn, LB  Mukai, S  Travis, GH  Berson, EL  Dryja, TP 
Citation: Kajiwara K, etal., Nature. 1991 Dec 12;354(6353):480-3.
RGD ID: 8553234
Pubmed: PMID:1684223   (View Abstract at PubMed)
DOI: DOI:10.1038/354480a0   (Journal Full-text)

The murine retinal degeneration slow (rds) gene is a semidominant mutation with a phenotype having rod and cone photoreceptors that develop abnormally and then slowly degenerate. The phenotype is a possible model for retinitis pigmentosa, one of the scores of hereditary human retinal degenerations, which is also characterized by photoreceptor degeneration. We report here three mutations of the human homologue of the rds gene (RDS) that cosegregate with autosomal dominant retinitis pigmentosa in separate families. Our results indicate that some cases of autosomal dominant retinitis pigmentosa are due to mutations at the RDS locus.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PRPH2Humanretinitis pigmentosa  IAGP DNA:deletion more ...RGD 
Prph2Ratretinitis pigmentosa  ISOPRPH2 (Homo sapiens)DNA:deletion more ...RGD 
Prph2Mouseretinitis pigmentosa  ISOPRPH2 (Homo sapiens)DNA:deletion more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Prph2  (peripherin 2)

Genes (Mus musculus)
Prph2  (peripherin 2)

Genes (Homo sapiens)
PRPH2  (peripherin 2)


Additional Information