| First Author | Gardner JM | Year | 1992 |
| Journal | Science | Volume | 257 |
| Issue | 5073 | Pages | 1121-4 |
| PubMed ID | 1509264 | Mgi Jnum | J:2206 |
| Mgi Id | MGI:50730 | Doi | 10.1126/science.257.5073.1121 |
| Citation | Gardner JM, et al. (1992) The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257(5073):1121-4 |
| abstractText | 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. |
