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Phenotypes Associated with This Genotype
Genotype
MGI:3834263
Allelic
Composition
Abca12tm1Lex/Abca12tm1Lex
Genetic
Background
involves: 129S/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca12tm1Lex mutation (2 available); any Abca12 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Neonatal lethality and epidermal hyperkeratosis in Abca12tm1Lex/Abca12tm1Lex mice

mortality/aging
• while near normal numbers of embryos are present at E18.5, no mice survives the immediate postnatal period

homeostasis/metabolism
• after birth mice dehydrate rapidly
• mice uniformly uptake dye unlike wild-type mice
• at E18.5, transepidermal water loss is greater than in wild-type mice
• skin exhibits loss of ceramide and accumulation of glucoslyceramide precursors unlike in wild-type mice

integument
• after birth mice dehydrate rapidly
• mice uniformly uptake dye unlike wild-type mice
• at E18.5, transepidermal water loss is greater than in wild-type mice
• mice exhibit a 6-fold thickening of the stratum corneum
• the stratum granulosum lacks intact lamellar storage bodies
• lack of organized lamellar structure in the interstitial spaces
• epidermal desquamation is impaired
• however, epidermal proliferation is normal

Mouse Models of Human Disease
OMIM ID Ref(s)
Ichthyosis, Congenital, Autosomal Recessive 4b; ARCI4B 242500 J:144062


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
06/22/2016
MGI 6.04
The Jackson Laboratory