New mouse model for polycystic kidney disease with both recessive and dominant gene effects

L Flaherty, EC Bryda, D Collins, U Rudofsky… - Kidney international, 1995 - Elsevier
L Flaherty, EC Bryda, D Collins, U Rudofsky, JC Montgomery
Kidney international, 1995Elsevier
New mouse model for polycystic kidney disease with both recessive and dominant gene
effects. 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 …
New mouse model for polycystic kidney disease with both recessive and dominant gene effects. 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.
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