Narita Makiko, Wang Yun, Kita Akiyo, Omi Natsue, Yamada Yoshihiro, Hiai Hiroshi
Department of Pathology and Biology of Diseases, Kyoto University Graduate School of Medicine, Yoshida-Konoe-cho, Sakyo-ku, Kyoto 606-8501, Japan.
Exp Eye Res. 2002 Dec;75(6):745-51. doi: 10.1006/exer.2002.2068.
The Nakano Cataract (NCT) is an autosomal, recessive, single gene mutation in mice leading to an osmotic cataract induced by an endogenous inhibitor of Na, K-ATPase. In this report, we further refined the map position of the mutant locus to a <0.7c M segment between D16Mit5 and D16Mit185 in 1,000 BALB/c-nct/nct x(BALB/c- nct/nctxMSM)F1 backcrossed mice with PCR-based microsatellite analysis. The NCT in the original Nakano mice developed at 3 weeks of age, rapidly formed a pin-head type dense opacity, whereas the cataract in the congenic BALB/c- nct/nct mice developed at 5-6 weeks of age or later, slowly formed a diffuse opacity. A major histological difference was the presence or absence of heavy condensation of the lens nucleus. These two types of cataract were segregated in the backcrossed mice. Linkage analysis of the two subtypes among the backcrossed mice revealed two recessive BALB/c-derived modifier genes on chromosome 3 and 10.
中野白内障（NCT）是小鼠中的一种常染色体隐性单基因突变，由钠钾ATP酶的内源性抑制剂诱导产生渗透性白内障。在本报告中，我们通过基于PCR的微卫星分析，在1000只BALB/c-nct/nct×（BALB/c-nct/nct×MSM）F1回交小鼠中，将突变基因座的图谱位置进一步精确到D16Mit5和D16Mit185之间小于0.7cM的区段。原始中野小鼠的NCT在3周龄时出现，迅速形成针头状致密混浊，而同源BALB/c-nct/nct小鼠的白内障在5至6周龄或更晚出现，缓慢形成弥漫性混浊。一个主要的组织学差异是晶状体核是否存在重度浓缩。这两种类型的白内障在回交小鼠中分离。对回交小鼠中两种亚型进行连锁分析，发现在3号和10号染色体上有两个源自BALB/c的隐性修饰基因。
