Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia.

ABSTRACT: Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing potential therapeutic interventions before human clinical trials. Here, we have generated an ACH mouse model in which the endogenous mouse Fgfr3 gene was replaced with human FGFR3^G380R (FGFR3^ACH) cDNA, the most common mutation in human ACH. Heterozygous (FGFR3^ACH/+) and homozygous (FGFR3^ACH/ACH) mice expressing human FGFR3^G380R recapitulate the phenotypes observed in ACH patients, including growth retardation, disproportionate shortening of the limbs, rou

SUBMITTER: Lee YC 

PROVIDER: S-EPMC5322349 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature