IMR Press / FBL / Volume 8 / Issue 6 / DOI: 10.2741/1111

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma
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1 Jules Stein Eye Institute, UCLA School of Medicine, 100 Stein Plaza, Los Angeles, CA 90095-7000, USA

Academic Editor: Alexander Ljubimov

Front. Biosci. (Landmark Ed) 2003, 8(6), 666–675; https://doi.org/10.2741/1111
Published: 1 May 2003
(This article belongs to the Special Issue Molecular mechanisms of eye diseases)
Abstract

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: Pdegtm, 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.

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