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Article

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6.

Human molecular genetics - 1 Aug 2002

Kameya Shuhei, Hawes Norman L, Chang Bo, Heckenlively John R, Naggert Jürgen K, Nishina Patsy M

Abstract excerpt

The autosomal recessive mouse mutation retinal degeneration 6 (rd6) causes small, white retinal spots and progressive photoreceptor degeneration similar to that observed in human flecked retinal diseases. Using a positional cloning approach, we determined that rd6 mice carry a splice donor mutation in the mouse homolog of the human membrane-type frizzled-related protein (Mfrp) gene that results in the skipping of...

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Source

Identifiers

PMID: 12140190
DOI: 10.1093/hmg/11.16.1879

Genes

RPE
MFRP

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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