title: The mouse polycystic kidney disease mutation (cpk) is located on proximal chromosome 12.
abstract: The mouse congenital polycystic kidney (cpk) mutation produces a condition that resembles human autosomal recessive polycystic kidney disease (ARPKD) in its pattern of inheritance, clinical progression, and histopathology. Inheritance of this mouse mutation in crosses segregating the Rb(12.14)8Rma translocation chromosome and various DNA markers of Chromosome 12 have localized cpk to a site near D12Nyu2, approximately 7 cM from the centromere of Chromosome 12. This result suggests that the homologous PKD2 gene should be localized to either human chromosome 2p23-p25 or chromosome 7q22-q31.
authors.affiliation: Jackson Laboratory, Bar Harbor, Maine 04609.
authors.forename: M T
authors.initials: MT
authors.lastname: Davisson
authors.forename: L M
authors.initials: LM
authors.lastname: Guay-Woodford
authors.forename: H W
authors.initials: HW
authors.lastname: Harris
authors.forename: P
authors.initials: P
authors.lastname: D'Eustachio
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D003433:Crosses, Genetic; D005260:Female; D008040:Genetic Linkage; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008811:Mice, Inbred DBA; D009154:Mutation; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D014178:Translocation, Genetic