Transcriptomic analysis of Matted mouse

Common loss-of-function variants in FLG encoding the epidermal barrier protein filaggrin are major drivers of atopic dermatitis (AD). Support for inherited skin barrier deficiency as a initiator of AD came from the flaky tail mice Flgft, which carry a frameshift in Flg and exhibit enhanced percutaneous transfer of protein allergens and chemical irritants. The commonly used Flgft strain maft also carries the hair mutant matted (Mattma), closely linked to Flg. Here, we separated the Flgft and Mattma mutations and identified nonsense mutation p.Y280* in Tmem79 (aka Matt; encoding mattrin) as the Mattma causative variant.