| First Author | Moyer JH | Year | 1994 |
| Journal | Science | Volume | 264 |
| Issue | 5163 | Pages | 1329-33 |
| PubMed ID | 8191288 | Mgi Jnum | J:18508 |
| Mgi Id | MGI:66789 | Doi | 10.1126/science.8191288 |
| Citation | Moyer JH, et al. (1994) Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science 264(5163):1329-33 |
| abstractText | A line of transgenic mice was generated that contains an insertional mutation causing a phenotype similar to human autosomal recessive polycystic kidney disease. Homozygotes displayed a complex phenotype that included bilateral polycystic kidneys and an unusual liver lesion. The mutant locus was cloned and characterized through use of the transgene as a molecular marker. Additionally, a candidate polycystic kidney disease (PKD) gene was identified whose structure and expression are directly associated with the mutant locus. A complementary DNA derived from this gene predicted a peptide containing a motif that was originally identified in several genes involved in cell cycle control. |
