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.

journal_name

Kidney Int

journal_title

Kidney international

authors

Flaherty L,Bryda EC,Collins D,Rudofsky U,Montogomery JC

doi

10.1038/ki.1995.69

subject

Has Abstract

pub_date

1995-02-01 00:00:00

pages

552-8

issue

2

eissn

0085-2538

issn

1523-1755

pii

S0085-2538(15)58833-9

journal_volume

47

pub_type

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