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

Mamm Genome. 1992;3(4):187-91. doi: 10.1007/BF00355717.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15
  • Humans
  • Mice
  • Mice, Mutant Strains / genetics*
  • Movement Disorders / genetics*
  • Phenotype
  • Pigmentation Disorders / genetics*
  • Prader-Willi Syndrome / genetics*
  • Syndrome