腓骨肌萎缩症2型(CMT2)小鼠模型的研究进展

doi:10.3724/SP.J.1005.2014.00021

遗传 ›› 2014, Vol. 36 ›› Issue (1): 21-29.doi: 10.3724/SP.J.1005.2014.00021

腓骨肌萎缩症2型(CMT2)小鼠模型的研究进展

于珍, 栾春杰, 顾鸣敏

上海交通大学医学院医学遗传学教研室, 上海 200025

收稿日期:2013-09-09 修回日期:2013-11-04 出版日期:2014-01-20 发布日期:2013-12-20
通讯作者: 顾鸣敏, 教授, 硕士生导师, 研究方向：遗传病的基因定位和功能研究。E-mail: gumm@sjtu.edu.cn E-mail:gumm@sjtu.edu.cn
作者简介:于珍, 硕士研究生, 专业方向：遗传病的基因定位和功能研究。E-mail: zy_chao@yeah.net
基金资助:
国家自然科学基金项目(编号：30470951, 31071107)资助

Research progress in the mouse models of Charcot-Marie-Tooth dis-ease type 2 (CMT2)

Zhen Yu, Chunjie Luan, Mingmin Gu

Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received:2013-09-09 Revised:2013-11-04 Online:2014-01-20 Published:2013-12-20

摘要/Abstract

摘要：

腓骨肌萎缩症(Charcot-Marie-Tooth disease, CMT)是人类最常见的遗传性运动和感觉神经疾病之一, 全球群体发病率约为1/2500。CMT主要分为脱髓鞘型(包括CMT1, CMT3, CMT4和CMTX1)和轴索型(CMT2)。迄今为止, 先后已有17个CMT2的致病基因被定位和克隆, 然而对这些基因的致病机制所知甚少。建立CMT2小鼠模型是从动物水平研究突变基因致病机制的有效手段。目前已成功构建了近10种CMT2的转基因小鼠、基因敲除小鼠或基因敲入小鼠模型, 其中尤以带有人源致病基因的转基因小鼠模型为多。文章简要介绍了CMT2小鼠模型构建策略, 着重阐述了CMT2小鼠模型的研究进展, 并对个别小鼠模型进行了剖析。

关键词: 腓骨肌萎缩症2型, 转基因小鼠, 基因敲入小鼠, 基因敲除小鼠

Abstract:

Charcot-Marie-Tooth disease (CMT) is a kind of common hereditary motor and sensory neuropathies with a global prevalence of about 1 in 2500. Clinically, CMT can be divided into two main types: a demyelinating type (CMT1, CMT3, CMT4 and CMTX1) and an axonal type (CMT2). Up to now, about 17 unique genes related to CMT2 have been mapped and cloned. However, the pathogenesis of these disease-causing genes is still unknown. The mouse models have been playing an important role in understanding the molecular mechanism of CMT2. Recently, near 10 transgenic, knock-in and knock-out mouse models of CMT2 have been generated. In this review, we briefly introduce the construction strategy of the CMT2 mouse models, summarize the research progress of the CMT2 mouse models, and analyze in detail a few typical mouse models of CMT2.

Key words: CMT2, transgenic mice, knock-in mice, knock-out mice

于珍, 栾春杰, 顾鸣敏. 腓骨肌萎缩症2型(CMT2)小鼠模型的研究进展[J]. 遗传, 2014, 36(1): 21-29.

Zhen Yu, Chunjie Luan, Mingmin Gu. Research progress in the mouse models of Charcot-Marie-Tooth dis-ease type 2 (CMT2)[J]. HEREDITAS, 2014, 36(1): 21-29.

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腓骨肌萎缩症2型(CMT2)小鼠模型的研究进展

Research progress in the mouse models of Charcot-Marie-Tooth dis-ease type 2 (CMT2)

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