CANDIDATE GENE ASSOCIATED WITH A MUTATION CAUSING RECESSIVE POLYCYSTIC KIDNEY-DISEASE IN MICE

A line of transgenic mice was generated that contains an insertional m utation causing a phenotype similar to human autosomal recessive polyc ystic kidney disease. Homozygotes displayed a complex phenotype that i ncluded bilateral polycystic kidneys and an unusual liver lesion. The mutant locus was cloned and characterized through use of the transgene as a molecular marker. Additionally, a candidate polycystic kidney di sease (PKD) gene was identified whose structure and expression are dir ectly associated with the mutant locus. A complementary DNA derived fr om this gene predicted a peptide containing a motif that was originall y identified in several genes involved in cell cycle control.