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The Mouse Pink-Eyed Dilution Locus - a Model for Aspects of Prader-Willi Syndrome, Angelman Syndrome, and a Form of Hypomelanosis of Ito
Mammalian Genome. 1992 ;3(4) :187-191
AbstractThe 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.
NotesEnglish Review JV423 MAMM GENOME