ArticleInvestigative ophthalmology & visual science2010
Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2.
Article in Investigative ophthalmology & visual science, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 35 citations in OpenAlex.
- Targeting astrocytic CLC2(CLCN2) restores myelin regeneration through inhibition of SPP1/CD44 signaling pathway in leukoencephalopathy.Molecular psychiatry · 2026Article
- Regulation of testosterone synthesis in Leydig cells by ClC-2 chloride channel.Reproduction (Cambridge, England) · 2025Article
- Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.Journal of translational medicine · 2024Review
- Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.Human genetics · 2023Article
- Co-occurrence ofClinical parkinsonism & related disorders · 2023Article
- Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy.Frontiers in genetics · 2023Article
- A Splicing Mutation inInternational journal of molecular sciences · 2022Article
- Apical CLC-2 in retinal pigment epithelium is crucial for survival of the outer retina.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Review
- Article
- CLCN2-related leukoencephalopathy: a case report and review of the literature.BMC neurology · 2019Review
- Noninvasive Electroretinographic Procedures for the Study of the Mouse Retina.Current protocols in mouse biology · 2018Article
- Research and progress on ClC‑2 (Review).Molecular medicine reports · 2017Review
- Directional Fluid Transport across Organ-Blood Barriers: Physiology and Cell Biology.Cold Spring Harbor perspectives in biology · 2017Review
- Article
- Early Functional and Morphologic Abnormalities in the Diabetic Nyxnob Mouse Retina.Investigative ophthalmology & visual science · 2016Article
- Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.The Journal of physiology · 2015Review
- Basolateral sorting of chloride channel 2 is mediated by interactions between a dileucine motif and the clathrin adaptor AP-1.Molecular biology of the cell · 2015Article
- Chloride channelopathies of ClC-2.International journal of molecular sciences · 2013Review
- Age-related changes in visual function in cystathionine-beta-synthase mutant mice, a model of hyperhomocysteinemia.Experimental eye research · 2012Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo determine the molecular basis and the pathologic consequences of a chemically induced mutation in a mouse model of photoreceptor degeneration, nmf240.
methodsMice 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).
resultsClinically, 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.
conclusionsThe 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.