| First Author | Flaherty L | Year | 1995 |
| Journal | Kidney Int | Volume | 47 |
| Issue | 2 | Pages | 552-8 |
| PubMed ID | 7723240 | Mgi Jnum | J:23047 |
| Mgi Id | MGI:70771 | Doi | 10.1038/ki.1995.69 |
| Citation | Flaherty L, et al. (1995) New mouse model for polycystic kidney disease with both recessive and dominant gene effects. Kidney Int 47(2):552-8 |
| abstractText | 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. |
