Abstract: The present invention relates to a HSP27 mutation (S135F) mediated Charcot-Marie-Tooth disease (CMT) animal model. Particularly, the vector expressing mutant HSP27 protein wherein the 135th serine is substituted with phenylalanine has been injected in the mouse zygote and then the mouse harboring the expression vector was selected. The selected mouse was confirmed to display Charcot-Marie-Tooth disease phenotype, so that the animal model was expected to be efficiently used for the evaluation of the effect of Charcot-Marie-Tooth disease treating material candidates.

Abstract: The present invention relates to a HSP27 mutation (S135F) mediated Charcot-Marie-Tooth disease (CMT) animal model. Particularly, the vector expressing mutant HSP27 protein wherein the 135th serine is substituted with phenylalanine has been injected in the mouse zygote and then the mouse harboring the expression vector was selected. The selected mouse was confirmed to display Charcot-Marie-Tooth disease phenotype, so that the animal model was expected to be efficiently used for the evaluation of the effect of Charcot-Marie-Tooth disease treating material candidates.

Abstract: The present invention relates to a method for the screening of a therapeutic agent for Charcot-Marie-Tooth disease (CMT) using induced pluripotent stem cells and motor neurons differentiated therefrom. Particularly, the present inventors prepared induced pluripotent stem cells from the human fibroblasts originated from CMT patient. When the motor neurons differentiated from the said induced pluripotent stem cells are used for the screening of a therapeutic agent for Charcot-Marie-Tooth disease, the pharmaceutical effect of the therapeutic agent candidates can be easily evaluated during the screening. In addition, by the method to prepare the induced pluripotent stem cells, autologous motor neurons which are usable for the screening of a patient-specific therapeutic agent and the patient-specific treatment can be prepared.