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MBNL loss of function in smooth muscle as a model for myotonic dystrophy gastrointestinal dysmotility

GSE305442 Mus musculus (mouse) RNA-seq (gene expression) 44 samples Submitted 2025/09/01 Platform GPL24247Platform GPL24676
At a glance

RNA-seq (gene expression) · mouse · 44 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
44 samples: 10 conditions, mostly in triplicateGroups 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
MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotilityProceedings of the National Academy of Sciences of the United States of America · 2025
Summary (written by the submitters)
Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy and severely affects multiple organ systems, including the brain, heart, skeletal muscle, and gastrointestinal (GI) tract. Despite 80% of individuals with DM1 experiencing GI dysfunction that affects their daily life, the mechanisms of GI dysmotility in DM1 remain an understudied aspect of the disease.
Read the full summary ↓
DM1 is caused by a CTG repeat expansion in the DMPK gene that, when expressed as an expanded CUG repeat RNA, sequesters and reduces the activity of the muscleblind-like (MBNL) RNA-binding protein family. We developed a mouse line with conditional, smooth muscle-specific knockout of Mbnl1 and Mbnl2 to model and investigate myogenic mechanisms contributing to GI dysmotility in DM1. Mice with Mbnl knockout exhibited delayed GI transit of small and large bowel in vivo and increased smooth muscle contractile tone of jejunum and colon segments ex vivo. Smooth muscle from jejunum and colon showed no histopathologic changes and contained increased phosphorylation of the 20 kDa myosin light chain (Mlc20), consistent with increased contraction. RNA sequencing of mouse and human DM1 GI samples enriched for smooth muscle revealed conserved misregulated alternative splicing of transcripts associated with the regulation of Mlc20 phosphorylation and smooth muscle contraction. These findings demonstrate that Mbnl KO disrupts the regulation of contraction dynamics and causes GI smooth muscle hyperactivity, suggesting that therapeutics that reduce GI contractile activity may help alleviate DM1 GI symptoms.
Published in
MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility
Peterson JAM, Frias JA, Miller AN et al. · Proceedings of the National Academy of Sciences of the United States of America 2025 · PMID 41379996 · doi:10.1073/pnas.2522788122
This dataset
Open GSE305442 in finder → Find more 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 GSE305442_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 PRJNA1305795 and SRA study SRP608890. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 41379996) ↗
Study design
10 conditions, mostly in triplicate
Colon, DM1, ×7 Colon, Unaffected, ×7 Jejunum, DM1, ×6 Jejunum, Unaffected, ×6 Jejunun, Mouse Myh11-CreERT2;Mbnl1flox/flox;M… ×3 Jejunum, Mouse Mbnl1flox/flox;Mbnl2flox/null, ×3 Jejunum, Mouse Myh11-CreERT2;WT, ×3 Colon, Mouse Myh11-CreERT2;Mbnl1flox/flox;Mbn… ×3 +2 more

Supports a between-group comparison across 44 samples.

How we read this: 10 replicated groups read from 44 sample titles; they account for 44 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

+ 4 more — browse all 44 samples with per-sample file links →

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