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

GSE283422 Mus musculus (mouse) RNA-seq (gene expression) 10 samples Submitted 2025/06/06 Platform GPL24247
At a glance

RNA-seq (gene expression) · mouse · 10 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Mus musculus (mouse)
Samples
10 samples: 5 × Wild type mice, control, vs 5 × Tcf4(CTG)100/(CTG)100 mice, Tcf4 knockin,Groups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
Generation of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 GeneInvestigative ophthalmology & visual science · 2025
Summary (written by the submitters)
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.
Read the full summary ↓
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.
Published in
Generation of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 Gene
Oyama Y, Ito S, Yuasa T et al. · Investigative ophthalmology & visual science 2025 · PMID 40465262 · doi:10.1167/iovs.66.6.18
This dataset
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE283422_RAW.tar (it can run to tens of gigabytes).

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1193621 and SRA study SRP549098. Searching any of these in the dataset finder brings you back here.

Study design
5 × Wild type mice, control, vs 5 × Tcf4(CTG)100/(CTG)100 mice, Tcf4 knockin,

Supports a between-group comparison across 10 samples.

How we read this: 2 replicated groups read from 10 sample titles; they account for 10 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study
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Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.