Generation and Characterization of Tcf4 CTG Trinucleotide Repeat Expansion Knock-in Mouse as a Model for Fuchs Endothelial Corneal Dystrophy

RNA sequencing analysis was performed using corneal endothelial tissue from 60-week-old Tcf4(CTG)100/(CTG)100 mice and wild type controls (n=5 per group). Among 26,133 expressed genes, we identified 4,510 differentially expressed genes (DEGs) with |Log2 Fold Change| ≥ 1 and adjusted P-value < 0.05, including 539 upregulated and 3,971 downregulated genes. Gene Ontology and pathway analyses revealed significant enrichment in pathways related to muscle system processes, visual system development, and ion channel activities. The most significantly enriched pathways included extracellular matrix organization, peptide ligand-binding receptors, and neuronal system pathways.