剔除小鼠神经微管运动蛋白Kif1b基因导致类似Charcot-Marie-Tooth病动物模型  

Neuronal microtubule motor protein Kif1b gene knockout mice as animal model of Charcot-Marie-Tooth disease

作　　者：董铭[1] 于澎[2] 饶明俐[1] 田中庸介[3] 

机构地区：[1]吉林大学第一医院神经内科,吉林长春130021 [2]吉林大学第二医院眼科,吉林长春130041 [3]东京大学医学部

出　　处：《中风与神经疾病杂志》2007年第3期275-277,共3页Journal of Apoplexy and Nervous Diseases

摘　　要：目的研究杂合子小鼠Kiflb基因剔除后导致的表现型,探讨其作为类似Charcot-Marie-Tooth (CMT)病动物模型的可行性。方法用Southern blotting和PCR检测同源重组和基因型,Western blotting测定杂合子KIF1B蛋白表达量,行为学实验观察其表现型。结果杂合子Kif1b基因剔除小鼠的KIF1B蛋白表达量减少了一半以上,行为学实验结果表明,杂合子基因剔除小鼠在运动和感觉方面均有异常。Rota-rod实验,Rod walking实验和Wire hanging实验中,野生型小鼠的停留时间均明显长于Kif1b基因剔除小鼠。同时,杂合子Kif1b基因剔除小鼠在热板实验和福尔马林实验中,表现出对温度觉和痛觉反应的迟钝,其反应时间与野生型小鼠相比明显延长,反应强度降低。结论杂合子Kif1b基因剔除小鼠的表现型与人类腓骨肌萎缩症相似,作为疾病模型具备可行性。Objective To investigate the feasibility of heterozygous kiflb gene knockout mice as an animal model of Charcot-Marie-Tooth （CMT） disease. Methods Checking homologous recombination and genotype by southern blotting and PCR,surveying KIF1B protein level in heterozygous mice and evaluating the phenotypes through behavior tests. Results KIF1B protein decreased to less than half in heterozygous kiflb knockout mice. Heterozygous Kiflb knockout mice showed to be abnormal in both motor and sensory functions in behavior tests. The retention time on Rota-rod test ,Rod walking test and Wire hanging test were significantly longer in wild type mice than that in knockout mice. Whereas the retention time on Hot plate was longer,temperature and pain reaction on Formalin test were retarded and were weaker in knockout mice. Conclusion The heterozygous Kiflb knockout mice mimic the symptom of human CMT disease,and it is feasible to use those mice as animal model of CMT disease.

关 键 词：微管运动蛋白 基因剔除 CHARCOT-MARIE-TOOTH病 动物模型 

分 类 号：Q34[生物学—遗传学]