Adam10 Haploinsufficiency Causes Freckle-Like Macules in Hairless Mice

The document from 2012 detailed a study on a mouse mutation named Pied, which leads to the development of freckle-like macules on Hairless mice. The macules, composed of melanocyte clusters, are due to a 1914 base pair deletion in the Adam10 gene, which is lethal in homozygous form. The penetrance of the macule phenotype was about 80% at 5 months of age. The study concluded that Adam10 inhibits melanocyte expansion in adult skin and could be a regulator of melanocyte progenitor cells. The findings suggest that Adam10 and Hairless might act within a shared pathway and could be targets for stimulating melanocyte expansion in adult epidermis, potentially aiding in repigmentation treatments for conditions like vitiligo. The study involved crossing mice, genotyping, and histological examinations to assess melanocyte numbers and pigmentation.