The Gene Identification And Behavioral Analysis Of CMT2L Type Transgenic Mouse Model

Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN), is the most common hereditary peripheral neuropathy with highly clinical and genetic heterogeneity. CMT is characterized by progressive and symmetric distal muscle atrophy, weakness, hyporeflexia and hypoesthesia in distal limbs. The incidence of CMT is about 1/2500. According to the electrophysiological and histopathological criteria, CMT can be divided into two forms:the demyelinating form (CMT1) and the axonal form (CMT2). Several modes of inheritance have been described in CMT, including autosomal dominant (AD), autosomal recessive (AR) and X-linked dominant or recessive (XD/XR).Although many mutations of a number of genes have been associated with CMT, the disease mechanisms caused by each gene may be different. The main mechanisms include dosage effect, loss of function, gain of function or dominant-negative effect.This experiment wo breed the transgenic mice which carry mutation of human pCAGGS-HA-K141N HSPB8 gene by behavior analysis and gene identification.we gain nine pCAGGS-HA-K141N HSPB8 and nine pCAGGS -HA-WT HSPB8 gene transgenic mouse. The behavior tests contain footprinting test, bar test, rotarod test and foot sole lancinating pain threshold test. The result of footprinting test analysis of variance:the randomized block design material anova multiple comparison of the F2 and F3 transgenic mice mutations group(MT),over expressing group(WT)and normal group(NT):p<0.05, have statistical significance. The result of bar test analysis of variance:the motor coordination ability of transgenic mice mutations group and over expressing group are less than normal group; The time of F3 transgenic mice mutations group in fixed stick are less than over expressing group (WT) and normal group(NT):p<0.05, have statistical significance. The result of Rotating experiment:the lower extremity peripheral nerve of transgenic mice mutations group have damaged in movement function. The result of foot sole lancinating pain threshold experiment analysis of variance:p>0.05, have no statistical significance.