Table 2.

IMPC data stakeholders, associated use cases and impact

IMPC data stakeholders	Use case	New knowledge
Biomedical researchers	Access statistically significant phenotypic associations for a given gene	Demonstrated sexual dimorphism (7); identification and characterization of essential genes for embryonic development (13) identification of genes associated with hearing loss (14), metabolic processes (15,16), eye development (17), bone mineral density (18), congenital and structural heart disorders and cardiomyopathy (19), pain sensitivity (20)
Rare disease researchers	Search for specific phenotypes or genes of interest	Translational pipeline using the HPO-annotated clinical descriptions of patients and MPO-annotated IMPC mice, allowing to establish gene–disease associations or models (21,22)
Common disease researchers	Search for functional characterisation of genes with association to disease derived from GWAS or effector gene analyses	Systematic detection of co-morbidities, facilitating the association of genes with human diseases and pleiotropy (4–6)
Essential genes researchers	Gather evidence from the IMPC viability pipeline, including embryonic screening and imaging data	Identification and characterization of genes that are essential for organism viability, critical for development and health (12,13,23)
Researchers, in general	Search for mouse lines or samples with phenotype data available, e.g., someone wishing to conduct secondary targeted phenotyping experiments on well-known genes to augment existing broad-based phenotype data	Deeper phenotypic characterization of IMPC mice, covering bone, immunophenotyping, brain morphogenesis, hearing loss, pulmonary metastatic colonisation (24–30)
Data scientists	Seek access to large-scale standardised gene-phenotype datasets to perform their own analyses in combination with other datasets	Application of pipeline using HPO-encoded clinical descriptions and MPO-encoded mouse KO descriptions to orthologue mapping, essential gene classification system, automated image analyses and statistical analysis of long-term series (22,23,31–34)
Informatics users	Access all, or partial, datasets for inclusion in their own resource set	Monarch Initiative (9); Illuminating the Druggable Genome (35); OpenTargets (36)
Funding bodies and programme staff	Track the progress of mouse production and phenotyping efforts, and the state of production, collection and dissemination of the data	Insights into genome editing techniques using ES cells or CRISPR/Cas9 genome editing methods; relevance for clinical genome editing (37–40)