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

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

Science (New York, N.Y.) - 21 Aug 1992

Gardner J M, Nakatsu Y, Gondo Y, Lee S, Lyon M F, King R A, Brilliant M H

Abstract excerpt

Complementary DNA clones from the pink-eyed dilution (p) locus of mouse chromosome 7 were isolated from murine melanoma and melanocyte libraries. The transcript from this gene is missing or altered in six independent mutant alleles of the p locus, suggesting that disruption of this gene results in the hypopigmentation phenotype that defines mutant p alleles. Characterization of the human homolog revealed that it...

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 Cloning, Molecular
Share to DNA

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

Share to Membrane Proteins

Share to Molecular Sequence Data

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 1509264
DOI: 10.1126/science.257.5073.1121

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

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.PMID 1509264Read ↗

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

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

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

Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.Semantic proximity Read ↗

Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse.Semantic proximity Read ↗

Mouse coat color mutations: from fancy mice to functional genomics.Semantic proximity Read ↗

In vivo DNA deletion assay to detect environmental and genetic predisposition to cancer.Semantic proximity Read ↗

Molecular analysis of the cDNAs encoded by the pun and pJ alleles of the pink-eyed dilution locus.Semantic proximity Read ↗

Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.Semantic proximity Read ↗

The underwhite (uw) locus acts autonomously and reduces the production of melanin.Semantic proximity Read ↗

The spontaneous coat color mutant white nose (wn) maps to murine chromosome 15.Semantic proximity Read ↗

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