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PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2003-4-17
pubmed:abstractText
A challenge in genetics is to understand the molecular basis of genetic and allelic heterogeneity. Divergent phenotypes caused by different variants of the same gene determine allelic heterogeneity. In the past few years, we have been studying an allelic series of mutations in the gamma-subunit of the cGMP phosphodiesterase gene (Pdeg) that resulted in visual defects ranging from stationary night blindness to progressive retinal degeneration. Here we describe the morphology and physiology of the retina in mice carrying four different Pdeg alleles: Pdeg(tm), Del 7C, Y84G, and W70A and the effect that these mutations of PDE gamma have on components of the activation and deactivation phases of phototransduction.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1093-4715
pubmed:author
pubmed:issnType
Electronic
pubmed:day
1
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
s666-75
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma.
pubmed:affiliation
Jules Stein Eye Institute, UCLA School of Medicine, 100 Stein Plaza, Los Angeles, CA 90095-7000, USA. farber@jsei.ucla.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't