New Mouse Model for Polycystic Kidney Disease With Both Recessive and Dominant Gene Effects

Kidney Int. 1995 Feb;47(2):552-8. doi: 10.1038/ki.1995.69.

Abstract

In the course of studying the genetics of chlorambucil mutagenesis, we have uncovered a new model for autosomal polycystic kidney disease (PKD). In the homozygous condition, the gene, jcpk, causes a very severe disease characterized by cysts in all segments of the nephron. Death usually occurs before 10 days of age. Extrarenal involvement was also noted; enlarged bile ducts, pancreatic ducts, and gall bladder often accompanied the PKD. In addition, approximately 25% of the aged +/jcpk heterozygotes show evidence of glomerulocystic disease. This gene maps to Chromosome 10 between two DNA markers, D10Mit20 and D10Mit42. Because this gene causes extrarenal abnormalities and because it has a heterozygote effect, it may be an informative animal model for the commonly occurring human adult dominant PKD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Chlorambucil
  • Chromosome Mapping
  • DNA, Mitochondrial
  • Disease Models, Animal
  • Genes, Dominant*
  • Genes, Recessive*
  • Genetic Markers
  • Kidney / pathology
  • Male
  • Mice
  • Mice, Inbred C3H
  • Mutagens
  • Polycystic Kidney Diseases / genetics*
  • Polycystic Kidney Diseases / pathology

Substances

  • DNA, Mitochondrial
  • Genetic Markers
  • Mutagens
  • Chlorambucil