| 433091 |
Q3V1D5 |
PLPL1_MOUSE |
Omega-hydroxyceramide transacylase (EC 2.3.1.296) (Patatin-like phospholipase domain-containing protein 1) |
DISRUPTION PHENOTYPE |
Homozygous knockout mice lacking Pnpla1 are obtained at the expected Mendelian ratio but die within 24 hours after birth (PubMed:27751867, PubMed:28248300). They display shiny and taut skin, often with a necrotic tail tip (PubMed:27751867, PubMed:28248300). They are less active, markedly smaller, and weighed significantly less than their wild-type counterpart (PubMed:27751867). Unique linoleate-containing lipids including acylceramides, acylglucosylceramides and (O-acyl)-omega-hydroxy fatty acids are almost absent in the epidermis while there is a reciprocal increase in their putative precursors (PubMed:27751867, PubMed:28248300). The absence of these highly hydrophobic linoleate-containing lipids in the epidermis is responsible for the lethal disruption of the epidermal permeability barrier which is characterized by a decrease in intercellular lipid lamellae in the stratum corneum, the loss or abnormalities of the cornified lipid envelope, and aberrant keratinocyte differentiation (PubMed:27751867, PubMed:28248300). Keratinocyte-specific conditional knockout mice also die shortly after birth, displaying desquamation with alteration of the stratum corneum and of the lipid composition of the epidermis (PubMed:28248300). {ECO:0000269|PubMed:27751867, ECO:0000269|PubMed:28248300}. |