International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


Ms Cathy Cogswell
Wadsworth Center
P.O. Box 2202
Albany, NY

Co-Authors:  1_Price S, 2)Flaherty L, 1)Bryda E
Institutions:   1)Marshall University School of Medicine, 2)Wadsworth Center

Positional cloning of the jcpk locus

The juvenile congenital polycystic kidney (jcpk/jcpk) mutant demonstrates an early and severe form of polycystic kidney disease.  Previous linkage analysis experiments placed the jcpk locus on chromosome 10 between SSLP markers D10Mit 115 and D10Mit 173.  Construction of a physical map yielded a contig containing six BACs.  Subsequent sequencing and analysis revealed a small number of potential candidate genes.   Here, we briefly describe the results of tests on candidate genes in the jcpk critical region.  Primers to these candidates were designed and tested on total RNA purified from 0-2 day old kidneys of both normal and jcpk/jcpk mice.  Examination of jcpk/jcpk RT-PCR-generated products showed a decrease in product size for one of the candidates selected.  Subsequent sequencing of the PCR products showed a splice site abnormality for one of the candidates in the jcpk/jcpk mice but not in normal B6 mice.  We are now determining whether this mutation is the cause of the polycystic kidney phenotype.  In addition, other candidates are being examined for possible mutations.

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