Mouse Genome Informatics
hm
    Abca12el12/Abca12el12
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• a few hours after birth

homeostasis/metabolism
• in fibroblasts exposed to an LXR agonist
• unlike wild-type cells, fibroblasts accumulate lipid in the presence or absence of the lipid donor acetylated LDL
• severe
• glucosylceramide in the epidermis is increased greater than 2.9-fold compared to in wild-type mice
• unlike wild-type cells, fibroblasts accumulate lipid in the presence or absence of the lipid donor acetylated LDL
• however, mice exhibit normal total levels of phosphatidylinositols, phosphatidylethanolamines, phosphatidylcholines, acyl- and lyso-phosphatidylcholines and sphingomyelin
• in the epidermis

growth/size/body

behavior/neurological

cellular
• in fibroblasts exposed to an LXR agonist
• unlike wild-type cells, fibroblasts accumulate lipid in the presence or absence of the lipid donor acetylated LDL

integument
• from E16.5 onward, mice lack skin folds around the trunk and limbs unlike wild-type mice
• mice lack of dense palisade basal cell nuclear architecture compared with wild-type mice
• corneocyte envelopes are smaller, sparser, and more fragile than in wild-type mice
• mice exhibit reduced lipid deposition between the intercellular spaces of the corneocyte envelope compared with wild-type mice
• from E16, mice exhibit hyperkeratosis with a 20 to 30 cell layer thick stratum corneum with unlike in wild-type mice
• as a whole at E17.5 and P1
• the epidermis undergoes premature differentiation compared to in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Ichthyosis, Congenital, Autosomal Recessive 4b; ARCI4B 242500 J:161652