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.
Contributor
Inventor: Franz Radner
Institute: University of Graz
Tool Details
*FOR RESEARCH USE ONLY
- Tool name: PNPLA1 Knockout mouse
- Alternate name: PNPLA1
- 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 (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
- 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
References
- 27751867
