PNPLA1 Knockout mouse

Useful model to study PNPLA1-deficient deficiency.

Contributors

Inventor Institute
Franz Radner University of Graz
Cat. #: 160873
Research Fields: Cell signaling and signal transduction;Metabolism
Target: Patatin-like phospholipase domain containing 1, ichthyosis, ARCI
Model: Knock-Out
Zygosity: Heterozygous
Strain: C57BL/6J
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.
Alternate name: PNPLA1
Product 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.
Conditional: No
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.
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.
References:

27751867

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