Why do we need IMPC data?

The function of the majority of genes is unknown

Whole genome sequencing has become relatively quick and cheap to achieve. However, the function of many genes is elusive. In the last few years, the IMPC has made major discoveries associated to parts of the genome that were previously unexplored, with new genes discovered that relate to deafness [1], diabetes [2], and rare diseases [3, 4]. Furthermore, the IMPC has made major contributions into understanding sexual dimorphism [5] and gene essentiality [4, 6, 7, 8].

Learning about gene function from IMPC phenotypic data

IMPC phenotypic data provides:

• Insight into the function of genes, including cross-species comparisons
• Measurements of phenosimiliarity between a patient’s phenotype and a knockout mouse line, allowing to effectively narrow down a list of genes suspected to be responsible for a condition in patients
• Mouse models for human disease, which allow researchers to investigate basic biological mechanisms that can lead to new therapeutic targets

In addition to providing phenotypic data, mouse strains are preserved in repositories and made available to the scientific community, providing a valuable resource for basic scientific research and for generating models for human disease.