PNPLA1 Knockout mouse

Cat. #160873

PNPLA1 Knockout mouse

Cat. #: 160873

Sub-type: Mouse

Availability: 6-8 weeks

Model: Knock-Out

This fee is applicable only for non-profit organisations. If you are a for-profit organisation or a researcher working on commercially-sponsored academic research, you will need to contact our licensing team for a commercial use license.


Inventor: Franz Radner

Institute: University of Graz

Tool Details
Target Details
Related Tools

Tool Details


  • Tool name: PNPLA1 Knockout mouse
  • Alternate name: PNPLA1
  • Research fields: Cell signaling and signal transduction;Metabolism
  • Tool sub type: Mouse
  • Model: Knock-Out
  • Conditional: No
  • Description: Useful model to study PNPLA1-deficient deficiency. Animals might be useful for studies, e.g. on skin development/barrier function or omega-O-acylceramide metabolism, or as model for Autosomal Recessive Congenital Ichthyosis (ARCI). Mice homozygous for the mutation die shortly after birth due to increased transepidermal water loss.
  • Genetic background: These 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. Omega-O-acylceramide levels are drastically reduced. In line, skin development and function are abnormal.
  • Zygosity: Heterozygous
  • Strain: C57BL/6J
  • Production details: A floxed neomycin resistance cassette was inserted upstream of exon 1. An additional loxP site was inserted downstream of exon 1. Cre-mediated recombination removed Pnpla1 exon 1 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.

Target Details

  • Target: Patatin-like phospholipase domain containing 1, ichthyosis, ARCI

Related Tools

  • Related tools: PNPLA1-flox mouse


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