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Article

A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Sept 2008

Nystuen Arne M, Sachs Andrew J, Yuan Yang, Heuermann Laura, Haider Neena B

Abstract excerpt

The nmf193 mutant was generated by a large-scale ENU mutagenesis screen and originally described as having a dominantly inherited phenotype characterized by fundus abnormalities. We determined that nmf193 mice exhibit outer-segment defects and progressive retinal degeneration. Clinical examination revealed retinal spotting apparent at 6 weeks of age. Histologic analysis of homozygous mutant mice at 6 weeks...

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Identifiers

PMID: 18763016
DOI: 10.1007/s00335-008-9138-5
PMCID: PMC4910819

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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