Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Abhd5tm1.1Rze Name: abhydrolase domain containing 5; targeted mutation 1.1, Rudolf Zechner MGI ID: MGI:4456205 Synonyms: Cgi-58- Gene: Abhd5  Location: Chr9:122180681-122210589 bp, + strand  Genetic Position: Chr9, 73.03 cM, cytoband F4 Alliance: Abhd5tm1.1Rze page

Small size, glossy dry skin, and necrotic tail tip in Abhd5tm1.1Rze/Abhd5tm1.1Rze mice Show the 5 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:160725
Parent Cell Line:	HM-1 (ES Cell)
Strain of Origin:	129P2/OlaHsd-Hprt1b-m3

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A loxP site was inserted upstream of exon 4 and a floxed neo cassette was inserted downstream of exon 7. Cre mediated recombination removed exons 4 through 7 and the neo cassette. The absence of protein expression was confirmed by western blot analysis on carcass lipid droplet extracts. (J:160725)

Targeting strategy and generation of the Abhd5tm1.1Rze allele

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	16 assay results
In Structures Affected by this Mutation:	5 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Abhd5 Mutation:	20 strains or lines available

Original:	J:160725 Radner FP, et al., Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58). J Biol Chem. 2010 Mar 5;285(10):7300-11
All:	2 reference(s)