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Contributor Information

  • Name Franz Radner ; Rudolf Zechner
  • Institute University of Graz

Tool Details

  • Tool name: ABHD5 knock out mouse
  • Alternate names: ABHD5, CGI-58
  • Tool type: Experimental models
  • Tool sub-type: Mouse
  • Model: Knock-Out
  • Conditional: No
  • Genetic background and 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.
  • Phenotype: 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.
  • Zygosity: Heterozygous
  • Strain: C57BL/6J
  • Description: 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.
  • Research area: Metabolism; Developmental biology
  • 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.

  • For Research Use Only

Target Details

  • Target: Abhydrolase domain containing 5, comparative gene identification-58, Chanarin-Dorfman, ichthyosis

Application Details

Handling

Documentation

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References

  • •  27725204
  • •  Radner et al. 2010. J Biol Chem. 285(10):7300-11. PMID: 20023287.