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Phenotypes Associated with This Genotype
Genotype
MGI:4461053
Allelic
Composition
Abca12el12/Abca12el12
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca12el12 mutation (0 available); any Abca12 mutation (42 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Ichthyosis, Congenital, Autosomal Recessive 4b; ARCI4B 242500 J:161652


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory