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Article

New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts.

PloS one - 1 Jan 2015

Kunze Sarah, Dalke Claudia, Fuchs Helmut, Klaften Matthias, Rössler Ute, Hornhardt Sabine, Gomolka Maria, Puk Oliver, Sabrautzki Sibylle, Kulka Ulrike, Hrabě de Angelis Martin, Graw Jochen

Abstract excerpt

Cataracts are the major eye disorder and have been associated mainly with mutations in lens-specific genes, but cataracts are also frequently associated with complex syndromes. In a large-scale high-throughput ENU mutagenesis screen we analyzed the offspring of paternally treated C3HeB/FeJ mice for obvious dysmorphologies. We identified a mutant suffering from rough coat and small eyes only in homozygotes;...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25951169
DOI: 10.1371/journal.pone.0125304
PMCID: PMC4423972

Genes

ERCC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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