| 18764 | O35245 | PKD2_MOUSE | Polycystin-2 (Polycystic kidney disease 2 protein homolog) (Transient receptor potential cation channel subfamily P member 2) | DISRUPTION PHENOTYPE | Complete embryonic lethality, with most embryos surviving up to about 16.5 dpc (PubMed:9568711, PubMed:10615132, PubMed:12062060). Embryos lacking Pkd2 develop normally up to 13.5 dpc, but after that about half of them display total body edema and focal hemorrhages (PubMed:10615132). Mutant embryos display defects in left-right laterality, including abnormal heart looping (PubMed:12062060). After 13.5 dpc, all embryos display defects in heart development, with defective formation of the interventricular septum (PubMed:10615132, PubMed:12062060). Besides, many display defective formation of the atrial septum and pericardial effusions (PubMed:10615132). After 14.5 dpc, the embryos display progressive cystic dilatation of pancreatic ducts (PubMed:10615132). After 15.5 dpc, they display progressive kidney cyst formation (PubMed:10615132). In contrast, liver development is normal, without any cyst formation (PubMed:10615132). Heterozygous mice with one null allele and one instable allele that leads to somatic loss of Pkd2 expression due to intragenic recombination all display bilateral renal cysts at an age of about 11 weeks (PubMed:9568711). These cysts cover 25-75% of the cut surface area of each kidney (PubMed:9568711). Progressive cyst formation leads eventually to renal failure and shortened lifespan (PubMed:10615132). Besides, these mice all display liver cysts and half of them display also bile duct proliferation (PubMed:9568711). About half of the heterozygous mice with one null allele and one instable allele that leads to somatic loss of Pkd2 expression due to intragenic recombination display visible pancreas cysts at an age of three months (PubMed:10615132). Mice homozygous for an instable allele that leads to somatic loss of Pkd2 expression due to intragenic recombination develop renal cysts that arise from cells that have lost Pkd2 expression (PubMed:9568711). Heterozygous mice that bear one null allele also have a reduced lifespan, but this is not due to kidney failure (PubMed:10615132). {ECO:0000269|PubMed:10615132, ECO:0000269|PubMed:12062060, ECO:0000269|PubMed:9568711}. |