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| disruption of the PKD1 gene in mice leads to cystic kidneys and embryonic or perinatal death ( | |
Pkd1(del34) -/- and Pkd1(L) -/- mice have cysts but no cardiac abnormalities, although vascular fragility was reported in the latter ( |
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Pkd1(del17-21betageo) +/- adult mice develop renal and hepatic cysts, Pkd1(del17-21betageo) -/- embryos die at embryonic days 13.5-14.5 from a primary cardiovascular defect that includes double outflow right ventricle, disorganized myocardium, and abnormal atrio-ventricular septation, and skeletal development is also severely compromised ( |
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mice that overexpress polycystin-1 develop renal cysts ( |
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targeted mouse mutant with a homozygous null mutation in Pkd1 develop aggressive and severe renal and pancreatic cystic disease but also polyhydramnios, hydrops fetalis, spina bifida occulta and osteochondrodysplasia ( |
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targeted mouse mutant with a heterozygoous null mutation in Pkd1 develop adult-onset pancreatic disease ( |
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mouse with a homozygous targeted deletion of exons 2-6 of Pkd1 develop hydrops, cardiac conotruncal defects and renal cystogenesis ( |
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Pkd1(+/-), Pkd2 (+/-) and Pkd1(+/-) : Pkd2 (+/-) mice, the renal cystic lesion was mild and variable with no adverse effect on survival at 1 year ( |
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mouse model with a hypomorphic Pkd1 allele, Pkd1(nl), are viable, showing bilaterally enlarged polycystic, kidneys dilatations of pancreatic and liver bile ducts, and cardiovascular abnormalities ( |
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inactivation of Pkd1 in mice before postnatal day 13 results in severely cystic kidneys within 3 weeks, whereas inactivation at day 14 and later results in cysts only after 5 months ( |
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transgenic mice from a Pkd1-BAC modified by introducing a silent tag develop tubular and glomerular cysts leading to renal insufficiency, renal fibrosis and calcium deposits in papilla reminiscent of nephrolithiasis hepatic fibrosis and approximately 15% intrahepatic cysts of the bile ducts affecting females preferentially and a significant proportion of mice developed cardiac anomalies with severe left-ventricular hypertrophy, marked aortic arch distention and/or valvular stenosis and calcification ( |
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mouse models of PC-1, a knock-in (KI) mutant line and a hair cell-specific inducible Cre-mediated knock-out line exhibit normal mechanoelectrical transduction channel function at neonatal ages despite hearing loss and ultrastructural abnormalities of sterecilia that remain properly polarized at adult ages ( |
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treatment with pioglitazone improved survival of Pkd1(-/-) embryos and ameliorated the cardiac defects and the degree of renal cystogenesis ( |
