title: A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
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.
authors.affiliation: The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
authors.forename: Bo
authors.initials: B
authors.lastname: Chang
authors.forename: Tanja
authors.initials: T
authors.lastname: Grau
authors.forename: Susann
authors.initials: S
authors.lastname: Dangel
authors.forename: Ron
authors.initials: R
authors.lastname: Hurd
authors.forename: Bernhard
authors.initials: B
authors.lastname: Jurklies
authors.forename: E Cumhur
authors.initials: EC
authors.lastname: Sener
authors.forename: Sten
authors.initials: S
authors.lastname: Andreasson
authors.forename: Helene
authors.initials: H
authors.lastname: Dollfus
authors.forename: Britta
authors.initials: B
authors.lastname: Baumann
authors.forename: Sylvia
authors.initials: S
authors.lastname: Bolz
authors.forename: Nikolai
authors.initials: N
authors.lastname: Artemyev
authors.forename: Susanne
authors.initials: S
authors.lastname: Kohl
authors.forename: John
authors.initials: J
authors.lastname: Heckenlively
authors.forename: Bernd
authors.initials: B
authors.lastname: Wissinger
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D003117:Color Vision Defects / Q000235:genetics*; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D051379:Mice; D008817:Mice, Mutant Strains; D020125:Mutation, Missense; D012326:RNA Splicing
chemical_list: D005136:Eye Proteins; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C096885:PDE6C protein, human