[Research progress in the mouse models of Charcot-Marie-Tooth disease type 2 (CMT2)].
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.
Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Zhen
Z
Yu
Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Chunjie
C
Luan
Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Mingmin
M
Gu
D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000209:etiology / Q000235:genetics; D004195:Disease Models, Animal; D005821:Genetic Techniques; D006801:Humans; D051379:Mice; D010641:Phenotype