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Physiol. Genomics 1: 101-105, 1999. First published August 31, 1999;
1094-8341/99 $5.00
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Received 10 March 1999; accepted in final form 14 July 1999.
Physiological Genomics 1:101-105 (1999)
1094-8341/99 $5.00 © 1999 American Physiological Society

Genetic analysis of modifying loci on mouse chromosome 1 that affect disease severity in a model of recessive PKD

OLGA IAKOUBOVA, HOLLY DUSHKIN, LISA PACELLA and DAVID R. BEIER

Genetics Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115

Iakoubova, Olga, Holly Dushkin, Lisa Pacella, and David R. Beier. Genetic analysis of modifying loci on mouse chromosome 1 that affect disease severity in a model of recessive PKD. Physiol. Genomics: 101–105, 1999.—Using a cross between C57BL/6J and FVB/N mice, we have confirmed the localization on chromosome 1 of a modifying locus that affects the severity of polycystic kidney disease (PKD) in the juvenile cystic kidney (jck) mouse. Despite the highly significant contribution of this locus in F2 progeny of a cross between C57BL/6J and DBA/2J mice (4), a series of congenic strains carrying regions of chromosome 1 on a DBA/2J background did not show a severe disease phenotype. One possible explanation for these results is that this phenotype is caused by two linked loci, which have been separated in the congenic lines that were generated. This hypothesis is supported by the demonstration that severe PKD occurs in mice carrying a large congenic interval.

quantitative trait locus analysis; mouse genetics; complex traits




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