Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity
Review articleOpen access

AbstractWe 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 × 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.

Request full text

References (0)

Cited By (0)

No reference data.
No citation data.
Join Copernicus Academic and get access to over 12 million papers authored by 7+ million academics.
Join for free!