Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair

Sci Rep. 2020 Feb 6;10(1):2000. doi: 10.1038/s41598-020-58876-w.

Abstract

Mutations in transforming growth factor-beta-induced (TGFBI) gene cause clinically distinct types of corneal dystrophies. To delineate the mechanisms driving these dystrophies, we focused on the R124C mutation in TGFBI that causes lattice corneal dystrophy type1 (LCD1) and generated novel transgenic mice harbouring a single amino acid substitution of arginine 124 with cysteine in TGFBI via ssODN-mediated base-pair substitution using CRISPR/Cas9 technology. Eighty percent of homozygous and 9.1% of heterozygous TGFBI-R124C mice developed a corneal opacity at 40 weeks of age. Hematoxylin and eosin and Masson trichrome staining showed eosinophilic deposits in subepithelial corneal stroma that stained negative for Congo-red. Although amyloid deposition was not observed in TGFBI-R124C mice, irregular amorphous deposits were clearly observed via transmission electron microscopy near the basement membrane. Interestingly, we found that the corneal deposition of TGFBI protein (TGFBIp) was significantly increased in homozygous TGFBI-R124C mice, suggesting a pathogenic role for the mutant protein accumulation. Furthermore, as observed in the LCD1 patients, corneal epithelial wound healing was significantly delayed in TGFBI-R124C mice. In conclusion, our novel mouse model of TGFBI-R124C corneal dystrophy reproduces features of the human disease. This mouse model will help delineate the pathogenic mechanisms of human corneal dystrophy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Arginine / genetics
  • CRISPR-Cas Systems
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Dystrophies, Hereditary / pathology
  • Corneal Stroma / pathology
  • Corneal Stroma / ultrastructure
  • Cysteine / genetics
  • Disease Models, Animal*
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Mice
  • Mice, Transgenic
  • Microscopy, Electron, Transmission
  • Mutation
  • Recombinational DNA Repair
  • Transforming Growth Factor beta / genetics*

Substances

  • Extracellular Matrix Proteins
  • Transforming Growth Factor beta
  • betaIG-H3 protein
  • Arginine
  • Cysteine

Supplementary concepts

  • Lattice corneal dystrophy type 1