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ABHD5 knock out mouse

Invented by Franz Radner , Rudolf Zechner
Invented at University of Graz
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Murine CGI-58 deficiency causes NLSD with ichthyosis. A, photograph of newborn wild-type and Cgi-58−/− mice. Note the glossy dry skin, the smaller size of the body, and necrotic tail tip. B, carcasses of newborn wild-type, Cgi-58−/−, and Atgl−/− mice were homogenized, and lipids were extracted. The TG content was determined enzymatically and normalized to body weight. Data are means ± S.D. (n = 4–6). Statistical significance was determined by the two-tailed Student's t test (***, p < 0.001). C, peripheral blood smear of Cgi-58−/− newborn was stained with May-Grünwald-Giemsa. Arrows indicate granulocyte vacuolization (Jordans' anomaly). D, skin sections of newborn wild-type and Cgi-58−/− mice were stained with hematoxylin/eosin for light microscopy (upper panel, scale bars represent 20 μm) or contrasted with uranyl acetate/lead citrate for transmission electron microscopy at ×5,000 magnification (lower panel). Adapted from Radner FP, Streith IE, Schoiswohl G, 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;285(10):7300-7311. doi:10.1074/jbc.M109.081877.
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Catalogue Number 160868
Antigen/Gene or Protein Targets abhydrolase domain containing 5, comparative gene identification-58, Chanarin-Dorfman, ichthyosis
Synonyms ABHD5, CGI-58
Model Knock-Out
Relevance Useful model to study ABHD5 deficiency. Animals might be useful for studies, e.g. on energy metabolism or skin development/barrier function. Mice homozygous for the mutation die shortly after birth due to transepidermal water loss.
Production Details A loxP site was inserted upstream of exon 4 and a floxed neomycin resistance cassette was inserted downstream of exon 7. Cre-mediated recombination removed Abhd5 exon 4 – 7 and the selection cassette. Further details are available upon request.
Breeding Information Good breeder. When maintaining a live colony, heterozygous mice may be bred together, as homozygotes die prematurely.
Conditional No
Growth/Phenotype Keywords Homozygote mutants display a severe ichthyosis-type skin barrier dysfunction, which leads to increased transepidermal water loss after birth, and consequently, death of the animal within hours. Further, knockout animals display growth retardation as well as triacylglycerol accumulation in the liver. Triacylglycerol hydrolysis is impaired in various tissues. Omega-O-acylceramide biosynthesis is drastically decreased. In line, keratinocyte differentiation is abnormal.
Strain C57BL/6J
Mouse Genetic Background/Cross History Mice were generated using HM1-ES cells. ES cell clones were injected into C57BL/6J blastocysts to enable coat colour selection of the chimeras. Mice were subsequently backcrossed to C57BL/6J (≥ 10 generations). Mice are backcrossed to C57BL/6J regularly to avoid generation of subpopulations.
Zygosity Heterozygous
Research Area Metabolism, Developmental Biology

References

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References: 2 entries

27725204

Radner et al. 2010. J Biol Chem. 285(10):7300-11. PMID: 20023287.

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References: 2 entries

27725204

Radner et al. 2010. J Biol Chem. 285(10):7300-11. PMID: 20023287.

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Inventor Information

Inventors

Franz Radner

Franz Radner

Rudolf Zechner

Rudolf Zechner

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Invented at

University of Graz
University of Graz

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