| First Author | Iakoubova OA | Year | 1995 |
| Journal | Genomics | Volume | 26 |
| Issue | 1 | Pages | 107-14 |
| PubMed ID | 7782068 | Mgi Jnum | J:23893 |
| Mgi Id | MGI:71630 | Doi | 10.1016/0888-7543(95)80088-4 |
| Citation | Iakoubova OA, et al. (1995) Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity. Genomics 26(1):107-14 |
| abstractText | We have used a novel method of chromosomal exclusion to map the recessive mutation juvenile cystic kidney (jck) to mouse chromosome 11 using an intercross between (C57BL/6J x DBA/2J) F1jck/ + mice. The severity of polycystic kidney disease (PKD) in the intercross progeny was significantly more variable than that found in the parental C57BL/6J strain, suggesting that a modifier locus or loci introduced from DBA/2J affects expression of jck. Two regions--one from DBA/2J on chromosome 10 and a second from C57BL/6J on chromosome 1--are associated with inheritance of a more severe PKD phenotype. The finding of a highly significant association of inheritance of a C57BL/6J-related locus with disease severity, with a maximal QTL analysis lod score of 16.8, was unexpected; this result suggests that inheritance of both this locus and at least one DBA/2J locus results in the more severe phenotype, presumably as a consequence of a direct or indirect interaction between their protein products. |
