References
Query Results -- Details
MGI Accession ID: MGI:50730
J Number: J:2206
Other Accession IDs:
Title: The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.
Authors: Gardner JM; Nakatsu Y; Gondo Y; Lee S; Lyon MF; King RA; Brilliant MH
Journal: Science
Volume: 257
Issue: 5073
Date: 1992 Aug 21
Year: 1992
Pages: 1121-4
Review Status: Peer Reviewed
Abstract:
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 is localized to human chromosome 15 at q11.2-q12, a region associated with Prader-Willi and Angelman syndromes, suggesting that altered expression of this gene may be responsible for the hypopigmentation phenotype exhibited by certain individuals with these disorders.
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