Pathogenesis of the platinum (cp) mutation, a model for oculocutaneous albinism.

doi:10.1111/1523-1747.ep12363621

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Article

Pathogenesis of the platinum (cp) mutation, a model for oculocutaneous albinism.

The Journal of investigative dermatology - 1 Aug 1993

Orlow S J, Lamoreux M L, Pifko-Hirst S, Zhou B K

Abstract excerpt

The platinum mutation at the C (albino) locus in the mouse is a potential model for oculocutaneous albinism in humans other than type IA (tyrosinase-negative) albinism. Although tissues from mice homozygous for the mutation display substantial tyrosinase activity, cutaneous and ocular pigmentation is severely restricted in affected animals. Using specific antipeptide antisera, we demonstrate that ocular extracts...

Topics

Albinism, Oculocutaneous
Animals
Disease Models, Animal
Epitopes
Eye
Immunoblotting
Intramolecular Oxidoreductases
Isomerases
Mice
Mice, Inbred C57BL
Mice, Mutant Strains

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Weight

Monophenol Monooxygenase

Mutation

Phenotype

Platinum

Tissue Extracts

Source

Open in PubMed

Identifiers

PMID: 7688401
DOI: 10.1111/1523-1747.ep12363621

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7688401-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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