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Hermansky–Pudlak HPS1/pale ear Gene Regulates Epidermal and Dermal Melanocyte Development
Journal of Investigative Dermatology
The pale ear (ep) mouse strain is a model for the Hermansky-Pudlak syndrome type 1 (HPS-1), an autosomal recessive disorder causing pigmentary dilution, visual disturbances, bleeding diatheses, pulmonary fibrosis, and granulomatous colitis. The ep mice have a coat color very similar to the black-colored parental strain, C57BL/6. However, the ears and tails of ep mice are significantly hypopigmented compared with the control animals, suggesting that the gene mutation in ep mice reveals adoi:10.1038/sj.jid.5700566 pmid:17068483 fatcat:cuultpq4obab5ptfjlgljwlawm