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International Mouse Phenotyping Consortium: Investigating gene function and providing insights into human disease
Robert Wilson1, Tuğba Bülbül Ataç2, Tsz Kwan Cheng2
1European Bioinformatics Institute, European Molecular Biology Laboratory, Welcome Genome Campus, Hinxton, CB10 1SD, UK.
Biorxiv : the Preprint Server for Biology
|November 24, 2025
Summary
The International Mouse Phenotyping Consortium (IMPC) provides extensive mouse phenotype data for over 9,000 genes, aiding human disease research. A newly rebuilt web portal enhances data access and usability for researchers worldwide.
Area of Science:
- Genomics
- Phenomics
- Bioinformatics
Background:
- The International Mouse Phenotyping Consortium (IMPC) systematically generates and analyzes phenotype data from mouse knock-out lines.
- IMPC has created over 1,400 mouse models relevant to human diseases, impacting over 8,000 research publications.
- IMPC data is integrated into major biological databases like MGI, Open Targets, and UniProt.
Purpose of the Study:
- To present the latest IMPC data release (DR23.0, 2025) and detail the significant enhancements to the IMPC web portal.
- To improve accessibility and usability of high-dimensional mouse phenotype data for the research community.
- To support researchers in utilizing large-scale datasets and the IMPC Application Programming Interface (API).
Main Methods:
- Systematic, high-throughput phenotyping of mouse knock-out lines.
- Rebuilding the IMPC web portal with a cloud-native architecture.
- Conducting usability studies to inform user interface improvements and developing new data visualization tools and API training materials.
Main Results:
- Data release DR23.0 includes over 100 million data points across 9,277 genes, identifying 113,803 significant phenotypes.
- The rebuilt IMPC web portal features a modern, user-friendly interface with improved data visualization.
- Enhanced API access and new training resources facilitate large-scale data retrieval and analysis.
Conclusions:
- The IMPC continues to be a vital resource for understanding gene function and modeling human diseases.
- The enhanced IMPC web portal significantly improves access to comprehensive mouse phenotyping data.
- These advancements empower researchers to leverage complex biological data for discovery in genetics and medicine.
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