PROJECT SUMMARY The International Mouse Phenotyping Project (MPI2) is a critical resource for biomedical research providing novel gene-phenotype associations for genes with little or no known function, supplying strains for thousands of mechanistic studies and delivering integration with genomic, phenomic and human disease-relevant information providing improved understanding into the underlying causes of rare and common disease. The MPI2 Consortium will continue to support project data generating partners by providing data acquisition, analysis, visualisation, quality control and integration of this valuable dataset ensuring it is robust and highly accessed. Specifically: • Develop and enhance standardized protocols for phenotyping tests and enhanced data upload and quality control processes ensuring tracking of consortium-wide progress of strain production and data generation and provision of FAIR quality controlled data for community use • Deliver statistical analysis and annotation pipelines extended to improve precision and recall of phenotypes of the growing dataset and image analysis techniques will extract new knowledge from >500,000 images. Phenotype comparisons to identify candidate disease models will be enhanced by including new disease populations and more extensive semantic mappings with human phenotype ontologies • Ensure rapid statistical analysis for newly acquired and quality controlled data enabling users to access new strains and knowledge about them quickly from the project’s web portal. • Enhance the project’s web portal for all users, new features for clinical user groups including visualisation tools with presentation improved for disease researchers and complex queries enabling deeper interrogation of phenotypes of interest for disease • Deliver a suite of training materials enabling learning journeys for diverse user groups • Deliver a communication and outreach strategy ensuring the project’s visibility increases and tracking new knowledge generated by the community using IMPC’s lines and data

PROJECT NARRATIVE Understanding human health and disease requires a deep understanding of gene function for all human genes. The lab mouse is genetically very similar to humans and is used to study the causes of common and rare human diseases. We provide access to millions of data points about mice that have had a gene removed, the data analysis discovers new gene functions and improves our understanding of normal and disease processes with the prospect of improving diagnoses for rare genetic disease and illuminating the causes of common diseases such as heart disease.