Article
Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects.
Human molecular genetics - 1 Oct 2001
Lu W, Shen X, Pavlova A, Lakkis M, Ward C J, Pritchard L, Harris P C, Genest D R, Perez-Atayde A R, Zhou J
Abstract excerpt
A high level of polycystin-1 expression is detected in kidneys of all patients with autosomal dominant polycystic kidney disease (ADPKD). Mice that overexpress polycystin-1 also develop renal cysts. Whether overexpression of polycystin-1 is necessary for cyst formation is still unclear. Here, we report the generation of a targeted mouse mutant with a null mutation in Pkd1 and its phenotypic characterization in...
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