June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
Development of a transgenic mouse with R124H human TGFBI mutation associated with Avellino corneal dystrophy
Author Affiliations & Notes
  • Katsuya Yamazoe
    Keio University School of Medicine, Tokyo, Japan
    Kameda medical center, Kamogawa, Japan
  • Satoru Yoshida
    Keio University School of Medicine, Tokyo, Japan
  • Shin Hatou
    Keio University School of Medicine, Tokyo, Japan
  • Miyuki Yasuda
    Keio University School of Medicine, Tokyo, Japan
  • Emi Inagaki
    Keio University School of Medicine, Tokyo, Japan
  • Yoko Ogawa
    Keio University School of Medicine, Tokyo, Japan
  • Kazuo Tsubota
    Keio University School of Medicine, Tokyo, Japan
  • Shigeto Shimmura
    Keio University School of Medicine, Tokyo, Japan
  • Footnotes
    Commercial Relationships Katsuya Yamazoe, None; Satoru Yoshida, None; Shin Hatou, None; Miyuki Yasuda, None; Emi Inagaki, None; Yoko Ogawa, None; Kazuo Tsubota, None; Shigeto Shimmura, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 2525. doi:
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      Katsuya Yamazoe, Satoru Yoshida, Shin Hatou, Miyuki Yasuda, Emi Inagaki, Yoko Ogawa, Kazuo Tsubota, Shigeto Shimmura; Development of a transgenic mouse with R124H human TGFBI mutation associated with Avellino corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2525.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: To investigate the phenotype and predisposing factors of an Avellino corneal dystrophy 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 187 mice including 17 homozygotes, 85 heterozygotes and 85 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 homozygous mice. Corneal opacity defined as granular and lattice deposits was observed in 52.9% of homozygotes, 20.0% of heterozygotes. The incidence of corneal opacity was significantly higher in homozygotes than in heterozygotes. Histology of affected mice was similar to histology of human Avellino dystrophy. Lesions were Congo red and Masson Trichrome positive, and were observed as a deposit of amorphous material by electron microscopy. The incidence of corneal opacity was higher in aged mice in each group.

Conclusions: We established an Avellino dystrophy mouse model caused by R124H mutation of human TGFBI.

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