bioRxivGeneticsPreprint
International Mouse Phenotyping Consortium: Investigating gene function and providing insights into human disease.
Robert WilsoniD, Tuğba Bülbül Ataç, Tsz Kwan Cheng, Anthony Frost, Osman GüneşiD, Marina KaniD, Piia Keskivali-Bond, Federico LópeziD, James Alastair McLaughliniD, Jakub Mucha, Tawanda Munava, Claudio Guilherme de Assis OliveiraiD, Diego PavaiD, Jose Francisco Peña EstradaiD, Ewan Selkirk, Bora Vardal, Sara WellsiD, Pilar CacheiroiD, Damian P. SmedleyiD, Helen ParkinsoniD
Abstract
The International Mouse Phenotyping Consortium (IMPC; https://www.mousephenotype.org/) web portal contains phenotype data for mouse protein-coding genes derived from analysis of data obtained in a systematic and high-throughput fashion from knock-out lines produced by IMPC. The project has produced >1,400 mouse models of human disease that recapitulate phenotypes observed in patients. Over 8000 papers rely on data or reagents generated by IMPC, demonstrating the impact of the project on the research and clinical communities, and IMPC data is incorporated into other resources, such as MGI, Open Targets and UniProt. Data release (DR23.0, 2025) contains > 100 million data points from 9,277 genes and identified 113,803 significant phenotypes. To manage efficient access to this quantity of high dimensional data the IMPC web portal has been rebuilt using a cloud native architecture. The modern user interface retains the look and feel of the original portal with improvements identified through a usability study. New data visualisation and training materials for large scale data access through the API have also been developed to make the resource easier to use. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=79 SRC="FIGDIR/small/681205v1_ufig1.gif" ALT="Figure 1"> View larger version (31K): org.highwire.dtl.DTLVardef@199243borg.highwire.dtl.DTLVardef@119c12forg.highwire.dtl.DTLVardef@1da1a27org.highwire.dtl.DTLVardef@1eb141d_HPS_FORMAT_FIGEXP M_FIG C_FIG
- Citations
- 0
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- TSUMUGI: a platform for phenotype-driven gene network identification from comprehensive knockout mouse phenotyping data
Akihiro Kuno, Kinari Matsumoto, … Seiya Mizuno·bioRxiv·Feb 20, 2026
- KOMPUTE: Imputing summary statistics of missing phenotypes in high-throughput model organism data
Coby Warkentin, Michael J. O’Connell, Donghyung Lee·Bioinformatics AdvancesPeer-reviewed·Jan 1, 2023
- Dimensional reduction of phenotypes from 53,000 mouse models reveals a diverse landscape of gene function
Tomasz Konopka, Letizia Vestito, Damian P. Smedley·Bioinformatics AdvancesPeer-reviewed·Jan 1, 2021
- A comprehensive plasma metabolomics dataset for a cohort of mouse knockouts within the international mouse phenotyping consortium
Dinesh Kumar Barupal, Ying Zhang, … Oliver Fiehn·MetabolitesPeer-reviewed·May 22, 2019
- Transportability of mouse gene knockout models to human complex phenotypes
Laurence J Howe, Sara Wells, … George Davey Smith·bioRxiv·Nov 5, 2026
- FERDINAND: An Open Framework for Download and AI-ready Preprocessing of IMPC 2D Radiographs
Ralph Steinkamp, Holger Maier, … Elida Schneltzer·bioRxiv·Oct 14, 2026