Atala A, Freeman M R, Mandell J, Beier D R
Division of Urology, Children's Hospital, Boston, Massachusetts.
Kidney Int. 1993 May;43(5):1081-5. doi: 10.1038/ki.1993.151.
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.
我们已经鉴定出小鼠中的一种新的隐性突变，该突变易引发多囊肾病。这种突变被称为幼年多囊肾（jck），出现在一个转基因小鼠品系中，但由于它与转基因自由分离，所以似乎与转基因无关。早在出生三天时，患病动物中就明显出现局灶性囊肿，且疾病呈进行性发展，但这些小鼠可育，通常能存活至四个月或更长时间。互补分析表明，jck突变与其他三个已知的隐性多囊肾突变（cpk和另外两个未命名的突变）并非等位基因，连锁研究表明它不太可能与第四个突变（pcy）等位。对这五个突变及其相互作用的研究，对于理解维持肾小管正常完整性所需的机制应会有所帮助。
