← BioTransfer GEO Dataset Finder
GEO series

Sexual dimorphism shapes AAK trajectory in Pax6 deficiency mouse model with early immune activation, impaired innervation, and altered tears

GSE326648 Mus musculus (mouse) RNA-seq (gene expression) 40 samples Submitted 2026/05/27 Platform GPL28330
At a glance

RNA-seq (gene expression) · mouse · 40 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
40 samples: 8 conditions, mostly with about 5 replicates eachGroups 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
Sexual Dimorphism Is Associated With Corneal Nerve and Epithelial Alterations and Tear-Film Defects in Pax6 Haploinsufficiency Mouse ModelInvestigative ophthalmology & visual science · 2026
Summary (written by the submitters)
Congenital aniridia often progresses to vision-threatening aniridia-associated keratopathy (AAK), yet when and how reduced PAX6 dosage destabilizes the ocular surface has remained unclear. Here we combine a conditional Pax6 haploinsufficient mouse with whole-mount imaging, functional assays, and sex-stratified corneal transcriptomics and tear-film proteomics to build an integrated, systems-level picture of disease initiation and progression.
Read the full summary ↓
Pax6+/− pups show delayed eyelid opening, and from the moment of first environmental exposure the cornea is primed for pathology: leukocytes accumulate by postnatal week two and remain elevated thereafter, epithelial differentiation is mis-specified (KRT12 loss with central expansion of KRT14), and central proliferation is persistently depressed despite grossly normal wound closure. Sensory architecture and function are profoundly impaired, fine epithelial fibers and TRPM8+ terminals are depleted, and corneal sensitivity is reduced, while trigeminal ganglion transcriptomes change little, pointing to a cornea-intrinsic guidance/maintenance failure. Sex emerges as a potent modifier: in otherwise modestly dimorphic wild-type corneas, Pax6 haploinsufficiency drives male- and female-specific gene networks that converge on inflammation and extracellular-matrix remodeling but diverge in metabolic and innate-immune programs; tears mirror and likely reinforce these shifts, with female-biased hyposecretion at baseline and, after abrasion, a failure of Pax6+/− tears to mount the ribosome/translation and axon-guidance response seen in controls, instead exaggerating innate-immune and keratinization pathways. Together, the data recast AAK as a vicious cycle of epithelial dysmaturation, chronic inflammation, and neurotrophic failure amplified by sex-modulated lacrimal changes. By pinpointing early inflammatory priming, a cornea-encoded denervation mechanism, and modifiable tear-film deficits, this work nominates tractable entry points, tempering inflammation, restoring neurotrophic support and reinnervation, and normalizing tear quality, with direct translational relevance to preventing or slowing AAK.
Published in
Sexual Dimorphism Is Associated With Corneal Nerve and Epithelial Alterations and Tear-Film Defects in Pax6 Haploinsufficiency Mouse Model
Willems M, Girard M, Feret N et al. · Investigative ophthalmology & visual science 2026 · PMID 42149034 · doi:10.1167/iovs.67.5.39
This dataset
Open GSE326648 in finder → Find more mouse RNA-seq datasets →
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.

Series matrix ↓
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 GSE326648_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓
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.

Raw reads on ENA ↗

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 PRJNA1446686 and SRA study SRP688441. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 42149034) ↗
Study design
8 conditions, mostly with about 5 replicates each
Cornea Pax6+/+ male ×5 Cornea Pax6+/- male ×5 Cornea Pax6+/+ female ×5 Cornea Pax6+/- female ×5 Trigeminal ganglion Pax6+/+ male ×5 Trigeminal ganglion Pax6+/- male ×5 Trigeminal ganglion Pax6+/+ female ×5 Trigeminal ganglion Pax6+/- female ×5

Supports a between-group comparison across 40 samples.

How we read this: 8 replicated groups read from 40 sample titles; they account for 40 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
Datasets on a similar topic

Search all mouse RNA-seq datasets in GEO →

Share this dataset

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.