International Mouse Phenotyping Consortium
The IMPC is an international collaborative effort to make an 'encyclopedia' of phenotypes for every gene in the mouse genome. This will provide an unparalleled, rich and comprehensive source of this information for the scientific community, forming the first functional annotation of a mammalian genome and serving as a springboard for future research.
While we now have the entire mouse genome at our fingertips, the exact function of most genes remains a mystery. Just as before you can read a book in another language, you must first know what each word means; before you can understand the genome, you must first know what each gene does. The International Mouse Phenotyping Consortium (IMPC) was formed to create, in effect, the dictionary that researchers need to truly understand the mammalian genome. It seeks to do this by systematically documenting the phenotypes of knockout mice for every gene.
A worldwide consortium
The IMPC includes research institutions and national funders from Europe, North America, Asia and Australia. Launched in September 2011, the project aims to conduct phenotyping tests for 20,000 knockout mouse lines in ten years, and is due to be completed in 2021.
MRC Harwell plays a key role, particularly as our Biocomputing group is the data coordination centre for the IMPC, integrating information from all of the centres and making it available to the scientific community via the IMPC portal. This team is responsible for coordinating the development of standard operating procedures, analysis of the data, quality control procedures and standardised annotation, as well as maintenance of the portal.
The mouse as a model
The mouse provides an excellent model for human conditions, as we share over 95% of our genes with mice. Their rapid life cycle, small size and prolific breeding ability make them perfect for genetic research, and a wide range of genetic tools have been developed for this purpose. The IMPC makes use of these tools to create knockout mouse lines lacking specific genes and investigate their traits.
One of the most important aspects of the work of the IMPC is that it is done by systematic phenotyping, where we assess over 250 physiological and anatomical parameters to give an overall phenotype. This differs greatly from research by individual groups, who are likely to have specific research interests, so may only investigate phenotypes relevant to these - leaving additional phenotypes undiscovered. Conversely, the IMPC can identify pleiotropy, where one gene influences more than one phenotypic trait, and form a comprehensive catalogue of gene-to-phenotype associations.
In order to create an archive of these knockout mice, we freeze sperm from each line to preserve and store the genetic material. The same lines can therefore be re-established for further study by our own researchers or external clients, who can order these lines via our FESA service or the IMPC portal. We also supply selected lines to specialist external researchers in our MRC Mouse Network, who we and work closely with to obtain secondary phenotypic analysis results and other additional information. In the future, we will integrate the phenotyping information collected by the IMPC with repositories of human data, enabling us to show potential links to human mutations and diseases.