The mouse bpk mutation closely resembles human ARPKD. Affected homozygotes develop cystic dilatation of the renal collecting ducts as well as biliary dysgenesis and die within four weeks of birth. In recent studies, we have excluded the possibility that bpk is allelic with either the mouse cpk or Tg737Rpw genes or the mouse ARPKD homologue.

In order to map the bpk gene, we reciprocally intercrossed BALB/c-bpk/+ (bpk/+) heterozygotes and Mus mus castaneus(CAST). As expected, 110 (23.4%) of the 470 F2 progeny generated developed recessive PKD. In these F2 bpk/bpk pups, the course of the renal disease is more severe than in the BALB/c parental strain, as evidenced by the development of marked abdominal distension by 9-15 days of age and rapid progression to death by 21 days. While the renal cystic disease severity is accelerated in these F2 bpk/bpk pups, the principal lesion continues to involve the collecting ducts.

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