Clinical Investigation

Kidney International (1993) 43, 1081–1085; doi:10.1038/ki.1993.151

Juvenile cystic kidneys (jck): A new mouse mutation which causes polycystic kidneys

Anthony Atala, Michael R Freeman, James Mandell and David R Beier

Division of Urology, Children's Hospital, and Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts, USA

Correspondence: Dr David R Beier, Division of Genetics, Brigham and Women's Hospital, 75 Francis Street, Boston, Massachusetts 02115, USA.

Received 15 September 1992; Revised 25 November 1992; Accepted 30 November 1992.

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Abstract

Juvenile cystic kidneys (jck): A new mouse mutation which causes polycystic kidneys. We have characterized a new recessive mutation in the mouse which predisposes to the development of polycystic kidney disease. This mutation, called juvenile cystic kidneys (jck), arose in a transgenic line of mice, but appears unrelated to the transgene since it segregates freely from it. While focal cysts are evident in affected animals as early as three days of life and the disease is progressive, the mice are fertile and generally survive to four or more months of age. Complementation analysis indicates that the jck mutation is not allelic with three other known recessive polycystic kidney mutations (cpk and two as yet unnamed mutations), and linkage studies demonstrate it is unlikely to be allelic with a fourth (pcy). The study of these five mutations and their interactions should prove useful for understanding the mechanisms required to maintain the normal integrity of renal tubules.

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