At InnoSer we deliver an in vivo mouse assay facilitating drug discovery for Autosomal Dominant Polycystic Kidney Disease (ADPKD). ADPKD is a genetic kidney disease, with a prevalence of 4 to 10.000.
In 85% the Pkd1-gene is mutated, in 15% the Pkd2-gene is mutated. The Pkd1-gene encodes the protein polycystin-1 and the Pkd2-gene encodes polycystin-2. The kidney is the organ affected the most. Thousands of fluid filled cysts pile up in the kidney during human life. Fluid filled cysts can not only be present in the kidneys in ADPKD patients, but have been reported in liver and pancreas as well. Other known complications in ADPKD patients are for instance hypertension and cardiovascular disease.
Rapidly screen for ADPKD treatments
Kidney cysts develop amongst others due to a mutated Pkd1-gene in the kidney epithelial cells. The formation of cysts can be mimicked by a Tamoxifen inducible knockout disease model in mice.
We are able to provide this phenotypic model, which uses the one-of-a-kind Pkd1 knock-out mouse model (Pkd1-cKO), which carries the Pkd1-gene homozygously with two loxP sites. After tamoxifen injection the Cre-protein is activated, which only is expressed (due to the specific promotor) in the kidney. This will delete the floxed part (exons 2-11) of the Pkd1-gene and this will cause a non-functional Pkd1-gene.
More information on the Pkd-model can be found in our brochure.