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An inducible mouse model of OI type V reveals aberrant osteogenesis caused by Ifitm5 c.-14C>T mutation

GSE264540 Mus musculus (mouse) Single-cell RNA-seq 1 samples Submitted 2025/02/20 Platform GPL24247
At a glance

Single-cell RNA-seq · mouse · 1 samples

What it is
Single-cell RNA-seqGene activity measured in thousands of individual cells, so cell types can be told apart. Read from the summary: GEO's own type field only says 'expression profiling by sequencing', so confirm it in the paper.
Organism
Mus musculus (mouse)
Samples
1 samples
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
An inducible mouse model of osteogenesis imperfecta type V reveals aberrant osteogenesis caused by Ifitm5 c.-14C>T mutationJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025
Summary (written by the submitters)
Osteogenesis imperfecta (OI) Type V is typically characterized by radial head dislocation, calcification of interosseous membrane and post-fracture hyperplastic callus. It is caused by the c.-14C>T mutation in the 5’UTR of the IFITM5 gene, adding five amino acids (MALEP) to the N-terminal of IFITM5 protein. Previous studies have suggested a neomorphic function of the MALEP-IFITM5 protein.
Read the full summary ↓
However, the underlying mechanisms remain unclear due to embryonic lethality in previous models. Therefore, we developed an inducible animal model of Ifitm5flox c.-14C>T that could be induced by Cre expressing at different developmental stages to explore the pathogenic effects of the neomorphic MALEP-IFITM5. Specifically, Prx1-Cre; Ifitm5flox c.-14C>T mutant mice were born with fractures in all limbs, showing deficient ossification and enhanced chondrogenesis associated with increased SOX9 abundance. We isolated skeletal cells from tibia of Ifitm5 mutant mouse at P6 stage and conducted single RNA sequencing (10X Genomics). The data were compared to the RNA-seq data generated from the tibia of control mouse at the same stage (GSE159544).
Published in
An inducible mouse model of osteogenesis imperfecta type V reveals aberrant osteogenesis caused by Ifitm5 c.-14C>T mutation
Tan Z, Shek HT, Li Z et al. · Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2025 · PMID 39908237 · doi:10.1093/jbmr/zjaf022
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 GSE264540_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: Single-cell studies usually ship their counts as 10x files (matrix.mtx, barcodes.tsv, features.tsv), an .h5 file, or an .rds / .h5ad object that Seurat or Scanpy can open. Look for those among the supplementary files.

Also filed as BioProject PRJNA1103117 and SRA study SRP503285. Searching any of these in the dataset finder brings you back here.

Samples in this study

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