GEO series

Mutant FGFR3 restricts bone yet expands brain via ERK-mediated self-repression

GSE316124 Mus musculus (mouse) RNA-seq (gene expression) 20 samples Submitted 2026/01/16 Platform GPL24247

At a glance

RNA-seq (gene expression) · mouse · 20 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: 20 samples: 20 samples, each with a distinct title — no replicated groupsGroups 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.

Summary (written by the submitters)

FGFR3 gain-of-function mutations cause achondroplasia, the most common form of dwarfism, yet trigger paradoxical cerebral overgrowth and skeletal stunting. Here， we demonstrate that mutant FGFR3 drives enhanced ERK activation, which then represses Fgfr3 expression and downregulates ERK signaling. In the developing cortex, this mechanism transiently expands cortical stem cells by activating ERK, then shifts signaling to downregulate Fgfr3/ERK/PKA and enhance YAP/TAZ, promoting premature ependymal maturation and cerebral overgrowth.

Read the full summary ↓

In growing bones, mutant Fgfr3 first elevates ERK to inhibit chondrocyte hypertrophy, then downregulates Fgfr3/ERK/PKA and upregulates YAP/TAZ to accelerate hypertrophy and ossification. Our findings establish that FGFR3 mutations limit bone yet expand brain size via an ERK negative feedback loop, revealing a unified disease mechanism and novel therapeutic targets.

This dataset

Open GSE316124 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 GSE316124_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 PRJNA1401577 and SRA study SRP661397. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗

Study design

20 samples, each with a distinct title — no replicated groups

Any grouping that defines a comparison lives in the sample characteristics, which GEO records separately from the titles.

How we read this: Read from 20 sample titles: 20 distinct titles with little repetition. 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

GSM9445152 bone,E13_5,WT
GSM9445153 bone,E13_5,FGFR3
GSM9445154 bone,E14_5,WT
GSM9445155 bone,E14_5,FGFR3
GSM9445156 bone,E15_5,WT
GSM9445157 bone,E15_5,FGFR3
GSM9445158 bone,E16_5,WT
GSM9445159 bone,E16_5,FGFR3
GSM9445160 bone,E17_5,WT
GSM9445161 bone,E17_5,FGFR3
GSM9445162 bone,E18_5,WT
GSM9445163 bone,E18_5,FGFR3
GSM9445164 cortex,E12_5,WT
GSM9445165 cortex,E12_5,FGFR3
GSM9445166 cortex,E15_5,WT
GSM9445167 cortex,E15_5,FGFR3
GSM9445168 cortex,E18_5,WT
GSM9445169 cortex,E18_5,FGFR3
GSM9445170 cortex,P2,WT
GSM9445171 cortex,P2,FGFR3

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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.