Phenotype Image Detail

Image

Caption

Loss of ABCA12 transport function induces hyperkeratosis of the stratum corneum and disrupts interstitial lamellar lipid structure. A, electron micrograph of the wild-type (Abca12 ^+/+) epidermis showing normal stratum corneum (SC) (10,000x). E, Abca12^tm1Lex/Abca12^tm1Lex (Abca12^-/-) epidermis showing massive hyperkeratosis of the SC (2000x magnification, which was required to capture the expanded SC). B, interstitial spaces of the wild-type SC demonstrate the lipid lamellar structures required for permeability barrier function (arrow, 80,000x), which are absent and replaced by a disorganized multivesicular material in the interstitial spaces of the mutant SC (F, arrow, 80,000x). C and D, lamellar storage bodies present in the wild-type stratum granulosum (C and D, 150,000x). The mutant stratum granulosum lacked lamellar storage bodies but did contain numerous multivesicular bodies, the presumptive precursor of the lamellar body (G and H, 150,000x).

Copyright

This image is from Zuo Y, J Biol Chem 2008 Dec 26;283(52):36624-35 and is displayed with the permission of the American Society for Biochemistry and Molecular Biology who owns the Copyright. Full text from JBC. J:144062

Associated Alleles

Symbol	Name
Abca12^tm1Lex	ATP-binding cassette, sub-family A member 12; targeted mutation 1, Lexicon Genetics

Associated Genotypes

Allelic Composition	Genetic Background
Abca12^tm1Lex/Abca12^tm1Lex	involves: 129S/SvEvBrd * C57BL/6J