References
Query Results -- Details
MGI Accession ID: MGI:51767
J Number: J:3253
Other Accession IDs:
Title: The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.
Authors: Brilliant MH
Journal: Mamm Genome
Volume: 3
Issue: 4
Date: 1992
Year: 1992
Pages: 187-91
Review Status: Peer Reviewed
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.
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