Analysis of mammalian gene function through mouse phenotyping

Over the last decade, new sequencing technologies have enabled the discovery of numerous new disease-associated genes. However, for many genes we still know very little about their function and potential role in disease and many patients remain undiagnosed. Model organisms facilitate the exploration of genotype to phenotype associations and public databases of this knowledge allow us to assess genes with no previous involvement in human disease. Towards this goal, the International Mouse Phenotyping Consortium (IMPC) is building the first complete functional catalogue of the mammalian genome by producing and phenotyping a knockout mouse strain for every protein coding gene.