The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.
The region of mouse Chromosome (Chr) 7 containing the mouse pink-eyed dilution locus, p, is syntenic with human chromosome 15q11-q13, a region associated with three human syndromes, Prader-Willi syndrome (PWS), Angelman syndrome (AS), and a form of hypomelanosis of Ito (HI). Because some mutant alleles of p also share a subset of phenotypes with PWS, AS, and HI, the same gene or genes disrupted by p locus mutations are potentially involved in the phenotypes of PWS, AS, and HI.
Brilliant
M H
MH
Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111.
D000818:Animals; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D051379:Mice; D008817:Mice, Mutant Strains / Q000235:genetics*; D009069:Movement Disorders / Q000235:genetics*; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics*; D011218:Prader-Willi Syndrome / Q000235:genetics*; D013577:Syndrome