A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L.

ABSTRACT: We previously found that the K141N mutation in heat shock protein B8 (HSPB8) was responsible for Charcot-Marie-Tooth disease type 2L in a large Chinese family. The objective of the present study was to generate a transgenic mouse model bearing the K141N mutation in the human HSPB8 gene, and to determine whether this (K141N)HSPB8 transgenic mouse model would manifest the clinical phenotype of Charcot-Marie-Tooth disease type 2L, and consequently be suitable for use in studies of disease pathogenesis. Transgenic mice overexpressing (K141N)HSPB8 were generated using K141N mutant HSPB8 cDNA cloned into a pCAGGS plasmid driven by a human cytomegalovirus expression system. PCR and western blot analysis confirmed integration of the (K141N)HSPB8 gene and widespread expression in tissues of the tra

SUBMITTER: Zhang R 

PROVIDER: S-EPMC4146190 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature