| 74591 |
E9Q876 |
ABCAC_MOUSE |
Glucosylceramide transporter ABCA12 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 12) |
DISRUPTION PHENOTYPE |
Homozygous knockout mice for Abca12 are born with a thickened epidermis and die shortly after birth, as water rapidly evaporates from their skin (PubMed:18957418). In a mouse model for harlequin ichthyosis (HI), homozygous knockout mice are smaller and die within a few hours and their entire body are covered of erythematous skin, making their skin less flexible. The entire skin surface is covered with thick scales and some mice develop skin fissures and eversions of the lips (eclabium). At 18.5 dpc, fetuses develop taut and shiny skin without normal skin folds and show contractures of the limbs. The lungs of the present model mice show signs of alveolar collapse (PubMed:18632686). {ECO:0000269|PubMed:18632686, ECO:0000269|PubMed:18957418}. |