Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2.

ABSTRACT:

Purpose

To investigate the phenotype and predisposing factors of a granular corneal dystrophy type 2 transgenic mouse model.

Methods

Human TGFBI cDNA with R124H mutation was used to make a transgenic mouse expressing human protein (TGFBIR124H mouse). Reverse transcription PCR (RT-PCR) was performed to analyze TGFBIR124H expression. A total of 226 mice including 23 homozygotes, 106 heterozygotes and 97 wild-type mice were examined for phenotype. Affected mice were also examined by histology, immunohistochemistry and electron microcopy.

Results

RT-PCR confirmed the expression of TGFBIR124H in transgenic mice. Corneal opacity defined as granular and lattice deposits was observed in 45.0% of homozygotes, 19.4% of heterozygotes. The incidence of corneal opacity was signifi

SUBMITTER: Yamazoe K 

PROVIDER: S-EPMC4511001 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature