Mouse genes could help decipher human disease

Mouse genes could help decipher human disease. Image: Spencer Phillips

Mouse genes could help decipher human disease

26 Jun 2017 - 16:15

About the study

  • An international team of researchers has characterised thousands of mouse genes in a standardised way, in an effort to better understand gene function. This knowledge facilitates new gene disease associations through detection of human and mouse phenotypical similarities. 
  • Identifying a link between a gene and a biological or pathological process is difficult, because any given function or disease may involve a combination of genes. 
  • Gene-to-disease association helps clinicians make more accurate diagnoses and accelerates the development of new therapies.

Hinxton, June 26, 2017 - Researchers at the European Bioinformatics Institute (EMBL-EBI) and their collaborators in the International Mouse Phenotyping Consortium (IMPC) have fully characterised thousands of mouse genes for the first time. Published in Nature Genetics, the results offer hundreds of new disease models and reveal previously unknown gene functions.

The 3328 genes described in this publication by the IMPC represent approximately 15% of the mouse genome.

What is the IMPC?

IMPC is an international endeavour to systematically identify the function of every mouse gene. Despite having the entire mouse genome at our fingertips, the exact function of most genes remains a mystery. To address the issue, the collaborators are phenotyping 20,000 genes before 2021. IMPC has been recognised by the G7 as a model for international research infrastructure. 

What can mouse models tell us?

We share 98% of our genes with mice. These genetic similarities make mice an ideal model for investigating human disease. By studying mice that have had a certain gene switched off – called ‘knockout’ mice – we can learn what happens when that gene can’t do its job. This also gives researchers a good idea of gene function.

“Mouse models allow us to speed up patient diagnosis and develop new therapies,” explains Terry Meehan, IMPC Project Coordinator at EMBL-EBI. “But before that can work, we need to understand exactly what each gene does, and what diseases it is associated with. This is a significant effort in data collection and curation that goes well beyond the capabilities of individual labs. IMPC is creating a data resource that will benefit the entire biomedical community.”

New disease models

“This comprehensive gene catalogue allows us to automatically detect similarities between IMPC mouse data and 7000 human diseases,” adds Nathalie Conte, bioinformatician at EMBL-EBI. “Researchers can use our data to understand disease mechanisms and develop new therapies. The data also expands our understanding of gene functions and allows us to build on these new insights.”

For the first time, this study revealed human disease traits in mouse models for forms of Bernard-Soulier syndrome (a blood clotting disorder), Bardet-Biedl syndrome (causing vision loss, obesity and extra fingers or toes) and Gordon Holmes syndrome (a neurodegenerative disorder with delayed puberty and lack of secondary sex characteristics).

“In addition to a better understanding of the disease mechanism and new treatments for rare disease patients, many of the lessons we learn here will also be of value to precision medicine, where the goal is to improve treatment through the customisation of healthcare based on a patient's genomic information,” concludes Damian Smedley, lead author from Queen Mary University of London.

IMPC is a unique collaboration. Its partners are using standardised methods to characterise genes in a systematic way. This involves knocking out genes, one by one, and studying the effects in detail and in a structured way, using standardised phenotyping tests. The knockout mouse strains are available to biomedical researchers worldwide.

Finding new links between a genotype (a specific combination of alleles for a given gene) and a phenotype (the physical manifestation of that genotype) is like fitting a new piece in an elaborate puzzle. Each new nugget of knowledge helps us see the picture in the puzzle of human disease more clearly, and points us in the right direction on the road to drug discovery.

EMBL-EBI is a member of the the Monarch Initiative, an international consortium that builds computational infrastructure to enable the comparison of model organisms with human disease.

Researchers can access the IMPC mouse strains in the established mouse repositories:


Discover more

Source article

MEEHAN, T, et al. (2017). Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. Nature Genetics. Published online 26 June; DOI: 10.1038/ng.3901

To find out more about IMPC, go to

Image credit: Spencer Phillips, EMBL-EBI

Members of the International Mouse Phenotyping Consortium include Medical Research Council Harwell, Wellcome Trust Sanger Institute, Helmholtz-Zentrum Muenchen, Toronto Centre for Phenogenomics, PHENOMIN, Australian Phenomics Network, RIKEN BioResource Center, CNR Monterotondo, MARC Nanjing University, The Jackson Laboratory, The Davis, Toronto, Charles River and CHORI Consortium (DTCC), Korea Mouse Phenotype Consortium, Bayor College of Medicine, National Laboratory Animal Center (National Applied Research Laboratories - NARLabs, Taiwan), EBI, Czech centre for Phenogenomics (IMG) and Universitat Autònoma de Barcelona.

The Monarch Initiative consists of QMUL, Oregon Health & Science University, The Jackson Laboratory, Lawrence Berkeley National Laboratory, the Garvan Institute in Australia, and the Charité - Universitätsmedizin Berlin.

Contact the news team

Vicky Hatch | Communications Officer

Oana Stroe | Senior Communications Officer

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