| Catalogue Number | 160873 |
| Antigen/Gene or Protein Targets | patatin-like phospholipase domain containing 1, ichthyosis, ARCI |
| Synonyms | PNPLA1 |
| Model | Knock-Out |
| Relevance | 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. |
| 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. |
| Conditional | No |
| Growth/Phenotype Keywords | 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. |
| Strain | C57BL/6J |
| Mouse Genetic Background/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 (≥ 10 generations). Mice are backcrossed to C57BL/6J regularly to avoid generation of subpopulations. |
| Zygosity | Heterozygous |
| Research Area | Metabolism, Cell Signaling & Signal Transduction |
Invented by Franz Radner at University of Graz
