Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen

The study analyzed skin from 538 knockout mouse mutants to identify novel skin phenotypes, using a systematic approach to annotate abnormalities in hair follicles, sebaceous glands, and interfollicular epidermis. Of these mutants, 50 exhibited epidermal phenotypes, with 9 corresponding to human genetic conditions with skin abnormalities. The research highlighted that some mutant genes were expressed in the skin, while others had systemic effects. Additionally, one phenotype was influenced by diet, and several showed incomplete penetrance. Detailed analysis of three specific mutants, including Myo5a, a model for human Griscelli syndrome, validated the screening process. This research was part of the first large-scale genome-wide tissue phenotype screen by the International Knockout Mouse Consortium, offering an open-access resource for further scientific exploration.