A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
Document Type
Article
Publication Date
2009
Keywords
Chromosome-Mapping, Color-Vision-Defects, Cyclic-Nucleotide-Phosphodiesterases-Type-6, DNA-Mutational-Analysis, Eye-Proteins, Mice-Mutant-Strains, Mutation-Missense, RNA-Splicing
First Page
19581
Last Page
19586
JAX Source
Proc Natl Acad Sci U S A 2009 Nov; 106(46):19581-6.
Abstract
Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.
Recommended Citation
Chang B,
Grau T,
Dangel S,
Hurd R,
Jurklies B,
Baumann B,
Bolz S,
Artemyev N,
Kohl S,
Heckenlively J,
Wissinger B.
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A 2009 Nov; 106(46):19581-6.