title: New mouse model for polycystic kidney disease with both recessive and dominant gene effects.
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.
authors.affiliation: Molecular Genetics Program, Wadsworth Center, New York State Department of Health, Albany, USA.
authors.forename: L
authors.initials: L
authors.lastname: Flaherty
authors.forename: E C
authors.initials: EC
authors.lastname: Bryda
authors.forename: D
authors.initials: D
authors.lastname: Collins
authors.forename: U
authors.initials: U
authors.lastname: Rudofsky
authors.forename: J C
authors.initials: JC
authors.lastname: Montogomery
mesh_terms: D000818:Animals; D002699:Chlorambucil; D002874:Chromosome Mapping; D004272:DNA, Mitochondrial; D004195:Disease Models, Animal; D005799:Genes, Dominant; D005808:Genes, Recessive; D005819:Genetic Markers; D007668:Kidney / Q000473:pathology; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D009153:Mutagens; D007690:Polycystic Kidney Diseases / Q000235:genetics* / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers; D009153:Mutagens; D002699:Chlorambucil