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Article

Generation of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 Gene.

Investigative ophthalmology & visual science - 2 Jun 2025

Oyama Yuki, Ito Suguru, Yuasa Taichi, Ueda Mizuki, Chiba Satoshi, Nakagawa Tatsuya, Izumi Ayaka, Ikawa Masahito, Koizumi Noriko, Okumura Naoki

Abstract excerpt

Purpose: Fuchs endothelial corneal dystrophy (FECD) is frequently associated with trinucleotide repeat (TNR) expansion in the TCF4 gene intron. The aim of this study was to establish a novel FECD mouse model with TNR expansion. Methods: We used CRISPR/Cas9-mediated genome editing to generate knock-in mice carrying 100 CTG repeats in the Tcf4 intron. Corneal endothelial phenotypes were evaluated using specular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Gene Knock-In Techniques

Share to Mice, Inbred C57BL

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Source

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Identifiers

PMID: 40465262
DOI: 10.1167/iovs.66.6.18
PMCID: PMC12151262

Genes

TNR
TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Generation of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 Gene.PMID 40465262Read ↗

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