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Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic. Kidney Int 1996 Oct;50(4):1158-65

Date

10/01/1996

Pubmed ID

8887273

DOI

10.1038/ki.1996.423

Scopus ID

2-s2.0-0029828119   31 Citations

Abstract

Numerous mouse models of polycystic kidney disease (PKD) have been described. All of these diseases are transmitted as single recessive traits and in most, the phenotypic severity is influenced by the genetic background. However, based on their genetic map positions, none of these loci appears to be allelic and none are candidate modifier loci for any other mouse PKD mutation. Previously, we have described the mouse bpk mutation, a model that closely resembles human autosomal recessive polycystic kidney disease. We now report that the bpk mutation maps to a 1.6 CM interval on mouse Chromosome 10, and that the renal cystic disease severity in our intersubspecific intercross progeny is influenced by the genetic background. Interestingly, bpk co-localizes with jcpk, a phenotypically-distinct PKD mutation, and complementation testing indicates that the bpk and jcpk mutations are allelic. These data imply that distinct PKD phenotypes can result from different mutations within a single gene. In addition, based on its map position, the bpk locus is a candidate genetic modifier for jck, a third phenotypically-distinct PKD mutation.

Author List

Guay-Woodford LM, Bryda EC, Christine B, Lindsey JR, Collier WR, Avner ED, D'Eustachio P, Flaherty L

Author

Ellis D. Avner MD Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Alleles
Animals
Animals, Newborn
Chromosome Mapping
Crosses, Genetic
Disease Models, Animal
Female
Genetic Complementation Test
Kidney
Male
Mice
Mice, Inbred BALB C
Mutation
Phenotype
Polycystic Kidney Diseases
Recombination, Genetic