A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an …

T Sasaki, A Shiohama, A Kubo, H Kawasaki… - Journal of allergy and …, 2013 - Elsevier
Background Flaky tail (ma/ma Flg ft/ft) mice have a frameshift mutation in the filaggrin (Flg ft)
gene and are widely used as a model of human atopic dermatitis associated with FLG
mutations. These mice possess another recessive hair mutation, matted (ma), and develop
spontaneous dermatitis under specific pathogen-free conditions, whereas genetically
engineered Flg−/− mice do not. Objective We identified and characterized the gene
responsible for the matted hair and dermatitis phenotype in flaky tail mice. Methods We …