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Phenotypes Associated with This Genotype
Genotype
MGI:6188328
Allelic
Composition
Abca12smsk/Abca12smsk
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca12smsk mutation (0 available); any Abca12 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• newborns die within a few hours after birth

integument
• E18.5 mutants show defective skin barrier
• disorganization of the basal layer
• mice exhibit higher density of corneodesmosomes in both the lower and upper layers of the stratum corneum indicating persistence of corneodesmosomes
• incomplete cornification is seen in stratum corneum with cells appearing transitional
• stratum corneum shows defects in lipid accumulation, with a reduction in glucosylceramide/ceramide levels and lamellar bodies with no lamellar cargo
• hyperkeratotic epidermis in E18.5 mutants, with the stratum corneum containing twice as many layers as wild-type skin at E18.5
• treatment of grafted mutant skin onto the back of immunocompromised skin with a cream containing recombinant KLK5 and KLK7 enzymes results in the peeling of the top layers and sloughing of the hyperkeratotic stratum corneum
• parakeratosis in the stratum corneum
• severe desquamatory defects in the epidermis, with retention of corneocytes and desmosomal/corneodesmosomal components
• corneocytes in epidermis are tightly attached to each other even after prolonged attempts to separate them
• skin shows abnormal lamellar bodies and the absence of lipid lamellae in the epidermis
• expansion of the granular layer
• reduction in the size of the spinous layer
• newborns appear severely dehydrated with dry cracking skin
• by E18.5, mutants develop a taut, thick skin and limb contractures
• E16.5 mutants develop a partial absence of normal skin folds around the trunk and limbs
• marker analysis indicates that terminal differentiation is deregulated in epidermis
• however, hair follicles appear to develop normally
• reduction of lipid secretion from stratum granulosum keratinocytes

homeostasis/metabolism
• newborns appear severely dehydrated with dry cracking skin
• E18.5 mutants show defective skin barrier

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive congenital ichthyosis 4B DOID:0060713 OMIM:242500
J:262458


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory