Phenotype Image Detail

Image

Caption

Murine ABHD5 (CGI-58) deficiency causes neutral lipid storage disease (NLSD) with ichthyosis. C, Peripheral blood smear of Abhd5^tm1.1Rze/Abhd5^tm1.1Rze (Cgi-58-/-) newborn was stained with May-Grunwald-Giemsa. Arrows indicate granulocyte vacuolization (Jordans' anomaly). D, skin sections of newborn wild-type and homozygous mutant mice were stained with hematoxylin/eosin for light microscopy (upper panel, scale bars represent 20 um) or contrasted with uranyl acetate/lead citrate for transmission electron microscopy at X5,000 magnification (lower panel).

This image is from Radner FP, J Biol Chem 2010 Mar 5;285(10):7300-11 and is displayed with the permission of the American Society for Biochemistry and Molecular Biology who owns the Copyright. Full text from JBC. J:160725

Associated
Alleles

Symbol	Name
Abhd5^tm1.1Rze	abhydrolase domain containing 5; targeted mutation 1.1, Rudolf Zechner

Associated
Genotypes

Allelic Composition	Genetic Background
Abhd5^tm1.1Rze/Abhd5^tm1.1Rze	involves: 129P2/OlaHsd * C57BL/6

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