Mouse Genome Informatics
hm
    Abca12tm1Lex/Abca12tm1Lex
involves: 129S/SvEvBrd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Ichthyosis, Congenital, Autosomal Recessive 4b; ARCI4B 242500 J:144062