NDLI: Photoreceptor Degeneration, Azoospermia, Leukoencephalopathy, and Abnormal RPE Cell Function in Mice Expressing an Early Stop Mutation in CLCN2

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Photoreceptor Degeneration, Azoospermia, Leukoencephalopathy, and Abnormal RPE Cell Function in Mice Expressing an Early Stop Mutation in CLCN2

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Photoreceptor Degeneration, Azoospermia, Leukoencephalopathy, and Abnormal RPE Cell Function in Mice Expressing an Early Stop Mutation in CLCN2

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Varvel, Nicholas H. Lamb, Bruce T. Peachey, Neal S. Maphis, Nicole Marín de Evsikova, Caralina Naggert, Jürgen K. Edwards, Malia M. Wu, Jiang Hicks, Wanda L. Collin, Gayle B. Nishina, Patsy M. Gifford, Elaine Whiting, Carrie
Description	Country affiliation: United States Author Affiliation: Edwards MM ( Jackson Laboratory, Bar Harbor, Maine, USA. medwar28@jhmi.edu)
Abstract	PURPOSE: To determine the molecular basis and the pathologic consequences of a chemically induced mutation in a mouse model of photoreceptor degeneration, nmf240. METHODS: Mice from a G3 N-ethyl-N-nitrosourea mutagenesis program were screened by indirect ophthalmoscopy for abnormal fundi. A chromosomal position for the recessive nmf240 mutation was determined by a genome-wide linkage analysis by use of simple sequence length polymorphic markers in an F2 intercross. The critical region was refined, and candidate genes were screened by direct sequencing. The nmf240 phenotype was characterized by histologic analysis of the retina, brain, and male reproductive organs and by electroretinogram (ERG)-based studies of the retina and retinal pigment epithelium (RPE). RESULTS: Clinically, homozygous nmf240 mutants exhibit a grainy retina that progresses to panretinal patches of depigmentation. The mutation was localized to a region on chromosome 16 containing Clcn2, a gene associated with retinal degeneration. Sequencing identified a missense C-T mutation at nucleotide 1063 in Clcn2 that converts a glutamine to a stop codon. Mice homozygous for the Clcn2(nmf240) mutation experience a severe loss of photoreceptor cells at 14 days of age that is preceded by an elongation of RPE apical microvilli. Homozygous mutants also experience leukoencephalopathy in multiple brain areas and male sterility. Despite a normal retinal histology in nmf240 heterozygotes, the ERG light peak, generated by the RPE, is reduced. CONCLUSIONS: The nmf240 phenotype closely resembles that reported for Clcn2 knockout mice. The observation that heterozygous nmf240 mice present with a reduced ERG light peak component suggests that CLCN2 is necessary for the generation of this response component.
ISSN	01460404
e-ISSN	15525783
DOI	10.1167/iovs.09-4887
Journal	Investigative Opthalmology & Visual Science
Issue Number	6
Volume Number	51
Language	English
Publisher	Association for Research in Vision and Ophthalmology
Publisher Date	2010-06-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Azoospermia Genetics Chloride Channels Codon, Nonsense Leukoencephalopathies Photoreceptor Cells, Vertebrate Pathology Retinal Degeneration Retinal Pigment Epithelium Animals Blotting, Western Brain Electroretinography Ethylnitrosourea Toxicity Genome-wide Association Study Mice Mice, Inbred C57bl Mice, Inbred Dba Mutagenesis Drug Effects Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, Non-p.h.s. Discipline Ophthalmology
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Sensory Systems Cellular and Molecular Neuroscience

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