EXPERIMENTAL MODELS
Contributor Information
- Name Franz Radner
- Institute University of Graz
Tool Details
- Tool name: PNPLA1 Knockout mouse
- Alternate names: PNPLA1
- Tool type: Experimental models
- Tool sub-type: Mouse
- Model: Knock-Out
- Conditional: No
- Genetic background and cross history: 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 (âĽÂ 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
- 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.
- Research area: Metabolism; Cell signaling and signal transduction
- 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.
- For Research Use Only
Target Details
- Target: Patatin-like phospholipase domain containing 1, ichthyosis, ARCI
Application Details
Handling
Documentation
References
- • 27751867
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