Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

Nature - 7 Jan 1993

Rinchik E M, Bultman S J, Horsthemke B, Lee S T, Strunk K M, Spritz R A, Avidano K M, Jong M T, Nicholls R D

Abstract excerpt

The mouse pink-eyed dilution (p) locus on chromosome 7 is associated with defects of skin, eye and coat pigmentation. Mutations at p cause a reduction of eumelanin (black-brown) pigment and altered morphology of black pigment granules (eumelanosomes), but have little effect on pheomelanin (yellow-red) pigment. We show here that the human complementary DNA DN10, linked to the p locus in mice, identifies the human...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Blotting, Southern

Share to Membrane Proteins

Share to Models, Genetic

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 8421497
DOI: 10.1038/361072a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.PMID 8421497Read ↗

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.Semantic proximity Read ↗

Molecular characterization of the p(un) allele of the mouse pink-eyed dilution locus.Semantic proximity Read ↗

Organization and sequence of the human P gene and identification of a new family of transport proteins.Semantic proximity Read ↗

Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.Semantic proximity Read ↗

The pink-eyed dilution gene and the molecular pathogenesis of tyrosinase-positive albinism (OCA2).Semantic proximity Read ↗

A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.Semantic proximity Read ↗

The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.Semantic proximity Read ↗

Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.Semantic proximity Read ↗

Conserved function of medaka pink-eyed dilution in melanin synthesis and its divergent transcriptional regulation in gonads among vertebrates.Semantic proximity Read ↗

P gene as an inherited biomarker of human eye color.Semantic proximity Read ↗

Development of a novel pink-eyed dilution mouse model showing progressive darkening of the eyes and coat hair with aging.Semantic proximity Read ↗

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.