Lenartowicz M, Kowal M, Buda-Lewandowska D, Styrna J
Department of Genetics and Evolution, Institute of Zoology, Jagiellonian University, Kraków, Poland.
J Inherit Metab Dis. 2002 Dec;25(8):647-59. doi: 10.1023/a:1022877130344.
The mosaic (Atp7a(mo-ms)) is an X-linked, lethal mutation in mice. In mosaic mutant males, many clinical features characteristic of defective copper metabolism have been observed and they die at the age of 15 days, exhibiting strong similarities to the brindled and macular mutants. About 4% of the mutant males live to sexual maturity and some of them are fertile. In this paper, alterations in the structure of the kidney from adult mutants are described. Owing to an inherited defect of efflux, copper is accumulated in the kidney of the mutants up to a toxic level and this leads to severe damage of the renal cortex. Pathological changes in the kidney mostly affected the structure of the renal corpuscle and renal tubules.
镶嵌体（Atp7a(mo-ms)）是小鼠中的一种X连锁致死突变。在镶嵌体突变雄性小鼠中，已观察到许多铜代谢缺陷的临床特征，它们在15日龄时死亡，与斑驳和黄斑突变体有很强的相似性。约4%的突变雄性小鼠活到性成熟，其中一些是可育的。本文描述了成年突变体肾脏结构的改变。由于外排的遗传缺陷，铜在突变体的肾脏中积累到有毒水平，这导致肾皮质严重受损。肾脏的病理变化主要影响肾小体和肾小管的结构。
