Phenotypes Associated with This Genotype

Genotype
MGI:4461053

• Allelic Composition: Abca12^el12/Abca12^el12
• Genetic Background: involves: 129/Sv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:161652 )

• a few hours after birth

homeostasis/metabolism

decreased cholesterol efflux ( J:161652 )

• 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

dehydration ( J:161652 )

• severe

impaired skin barrier function ( J:161652 )

• at E18.5

abnormal lipid homeostasis ( J:161652 )

• 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

increased cholesterol level ( J:161652 )

• in the epidermis

growth/size/body

decreased fetal size ( J:161652 )

• at E18.5

behavior/neurological

absent suckling reflex ( J:161652 )

cellular

decreased cholesterol efflux ( J:161652 )

• 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

impaired skin barrier function ( J:161652 )

• at E18.5

abnormal skin morphology ( J:161652 )

• from E16.5 onward, mice lack skin folds around the trunk and limbs unlike wild-type mice

abnormal epidermis stratum basale morphology ( J:161652 )

• mice lack of dense palisade basal cell nuclear architecture compared with wild-type mice

abnormal corneocyte envelope morphology ( J:161652 )

• 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

hyperkeratosis ( J:161652 )

• from E16, mice exhibit hyperkeratosis with a 20 to 30 cell layer thick stratum corneum with unlike in wild-type mice

abnormal epidermal lamellar body morphology ( J:161652 )

• scarce or malformed

thick epidermis stratum granulosum ( J:161652 )

thin epidermis stratum spinosum ( J:161652 )

thin epidermis ( J:161652 )

• as a whole at E17.5 and P1

tight skin ( J:161652 )

abnormal skin development ( J:161652 )

• the epidermis undergoes premature differentiation compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive congenital ichthyosis 4B		DOID:0060713	OMIM:242500	J:161652