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, 1995•ElsevierNew 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 …
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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