|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1
|
|
pubmed:dateCreated |
1992-8-27
|
|
pubmed:abstractText |
retinal degeneration slow (rds) is a semidominant mutation of mice with the phenotype of abnormal development of rod and cone photoreceptors, followed by their slow degeneration. The rds gene has been putatively cloned and its novel protein product initially characterized biochemically. In the present study we undertook to correct in vivo the retinal phenotype of mice with the rds mutation. We assembled a transgene containing a regulatory segment of the opsin gene positioned upstream of the wild-type rds coding region. Mice from three transgenic lines, homozygous for the rds mutation, were analyzed for expression of the transgene and for their retinal phenotypes. In two high expressing lines, we observed complete reversion to wild-type retinal morphology. In a third, low expressing line, we observed a retinal phenotype intermediate between wild type and rds/rds, suggesting partial rescue of the mutation. These results constitute formal proof that we have cloned the rds gene.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jul
|
|
pubmed:issn |
0896-6273
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
9
|
|
pubmed:geneSymbol |
rds
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
113-9
|
|
pubmed:dateRevised |
2008-11-21
|
|
pubmed:meshHeading |
pubmed-meshheading:1385966-Animals,
pubmed-meshheading:1385966-Blotting, Northern,
pubmed-meshheading:1385966-Blotting, Southern,
pubmed-meshheading:1385966-DNA,
pubmed-meshheading:1385966-Eye Proteins,
pubmed-meshheading:1385966-Gene Expression,
pubmed-meshheading:1385966-Homozygote,
pubmed-meshheading:1385966-Intermediate Filament Proteins,
pubmed-meshheading:1385966-Membrane Glycoproteins,
pubmed-meshheading:1385966-Mice,
pubmed-meshheading:1385966-Mice, Transgenic,
pubmed-meshheading:1385966-Microscopy, Electron,
pubmed-meshheading:1385966-Mutation,
pubmed-meshheading:1385966-Nerve Degeneration,
pubmed-meshheading:1385966-Nerve Tissue Proteins,
pubmed-meshheading:1385966-Phenotype,
pubmed-meshheading:1385966-Photoreceptor Cells,
pubmed-meshheading:1385966-RNA, Messenger,
pubmed-meshheading:1385966-Retina,
pubmed-meshheading:1385966-Retinal Dysplasia,
pubmed-meshheading:1385966-Rod Opsins
|
|
pubmed:year |
1992
|
|
pubmed:articleTitle |
Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice.
|
|
pubmed:affiliation |
Department of Psychiatry, University of Texas, Southwestern Medical Center, Dallas 75235.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|
