Collaborations

The IMPC has several major collaborators, listed below. If you are interested in collaborating with us please get in touch at info@mousephenotype.org.
The IMPC follows the FAIR Data Principles in order to make data findable, accessible, interoperable and reusable.

3i

The Infection and Immunity Immunophenotyping (3i) consortium conducts a high-throughput immunological phenotyping of approximately 550 knockout mouse lines generated by the Wellcome Trust Sanger Institute (WTSI).

The project is entirely open access and all data is made available online via this website and the website of the International Mouse Phenotyping Consortium (IMPC). All generated knockout mouse lines can be requested from the IMPC.

Find out more: http://www.immunophenotype.org/

Care4Rare, Canada

Care4Rare (C4R) is a pan-Canadian collaborative team of clinicians, bioinformaticians, scientists, and researchers, focused on improving the care of Rare Disease patients in Canada and around the world.  Led out of the Children’s Hospital of Eastern Ontario (CHEO) Research Institute in Ottawa, Canada, Care4Rare includes 21 academic sites across the country, and is recognized internationally as a pioneer in the field of genomics and personalized medicine.

Care4Rare play a critical role in gene discovery for rare disease and molecular pathogenesis through IMPC disease models.

Find out more: http://care4rare.ca/

Centers for Mendelian Genomics (CMG)

The CMG use genome-wide sequencing and other methods to discover the genetic basis underlying Mendelian traits. They accelerate discoveries by sharing their data, knowledge and effective approaches via reaching out to individual investigators and coordinating with other rare disease programs worldwide. Discovery and understanding of genetic variants that underlie human Mendelian disorders will assist in the faster diagnosis of patients and lead to new therapeutic approaches.

CMG and the IMPC are continuing to collaborate by prioritising genes with putative Mendelian variants for the generation of null mutants and analysis via the IMPC pipeline. Our mouse models support the functional investigation of candidate genes, mechanistic evaluation of candidate variants and the identification of Mendelian conditions.

Find out more: http://www.mendelian.org/ https://www.genome.gov/Funded-Programs-Projects/NHGRI-Genome-Sequencing-Program/Centers-for-Mendelian-Genomics-CMG

DMDD

Deciphering the mechanisms of developmental disorders (DMDD) is a programme to find out more about gene knockouts that in the mouse cause embryonic or perinatal death. DMDD is carrying out detailed imaging and morphological phenotyping to find out why these genes are critical for embryo survival.

Find out more: https://dmdd.org.uk/programme

Gabriella Miller Kids First Pediatric Research Program

Gabriella Miller Kids First Pediatric Research Program (Kids First) is an NIH program to help researchers uncover new insights into the biology of childhood cancer and structural birth defects, including the discovery of shared genetic pathways between these disorders.

Kids First, Knockout Mouse Phenotyping Program (KOMP2) and the IMPC are collaborating on a pilot project to develop mouse strains to study, phenotype, and validate coding and non-coding genetic variants (e.g. missense, structural variants, copy number variants, INDELS, frame shifts) identified from Kids First datasets.

Find out more: https://commonfund.nih.gov/KidsFirst

Collaboration info:https://commonfund.nih.gov/kidsfirst/collaboration 

Genomics England & the 100,000 Genomes Project

Genomics England was originally created to lead the 100,000 Genomes Project – aiming to sequence 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer.

This Project was extended in 2018, the UK government extended the project to 1 million genomes in collaboration with the NHS and UK Biobank, with plans to reach 5 million over five years.

Find out more: https://www.genomicsengland.co.uk/about-genomics-england/

Illuminating the Druggable Genome (IDG)

IDG is an NIH Common Fund project focused on collecting, integrating and making available biological data on 395 human genes from three key druggable protein families that have been identified as potential therapeutic targets:

  • non-olfactory G-protein coupled receptors (GPCRs)
  • ion channels
  • protein kinases

The IMPC consortium is creating knockout mouse strains for the IDG project to advance understanding of the function of these proteins.

Information sharing between the KOMP2 and IDG projects allows researchers to prioritize understudied genes and increase the pace and scientific depth of phenotyping studies. The combination of IDG’s human protein/gene data with the IMPC’s phenotype and mouse model data helps researchers to find candidate genes for drug discovery. It also accelerates our ability to discover new biological insights and apply findings to health and disease.

IDG is also defining how the IMPC is exploring the ‘dark’ genome, providing insight into the progress that is being made using mouse genetics to illuminate gene function.

Link to sub-page: http://www.mousephenotype.org/data/secondaryproject/idg Find out more: https://commonfund.nih.gov/idg

INFRAFRONTIER

INFRAFRONTIER is Europe’s research infrastructure for the development, phenotyping, archiving and distribution of model mouse and rat genomes. INFRAFRONTIER goals include:

  • Providing access to mouse models, data, and scientific platforms and services to study the functional role of the genome in human health and disease.
  • Archiving and distribution of scientifically valuable mouse strains through the European Mouse Mutant Archive (EMMA), one of the worlds leading mouse repositories.
  • Providing access to a whole-organism, systemic analysis of genotype-phenotype interactions using cutting-edge analytical and diagnostic methodology in the INFRAFRONTIER mouse clinics.
  • Providing bottom-up access for individual scientists and research groups and top-down capacities for large-scale international initiatives such as the International Mouse Phenotyping Consortium (IMPC).

You can find IMPC, KOMP and EUCOMM mouse strains on INFRAFRONTIER’s EMMA repository.

Find out more: https://www.infrafrontier.eu/

KOMP Bonebase

This resource is performing in-depth bone phenotyping of IMPC mice produced by the Jackson Laboratory and draws from the expertise of a multi-disciplinary team based at the University of Connecticut, the UCONN Health Center, the University of Rochester Medical Center, and the Jackson Laboratory.

IMPC mouse lines are subjected to detailed microCT analysis and those lines determined as having abnormal trabecular or cortical bone are further characterised in dynamic and cellular histomorphometry assays.

Find out more: http://bonebase.org/bonebase/

MMPC

A National Institutes of Health-sponsored resource that provides experimental testing services to scientists studying diabetes, obesity, diabetic complications, and other metabolic diseases in mice.

Find out more: https://www.mmpc.org/

The Monarch Initiative

The Monarch initiative is a tool that has been developed using computational reasoning to enable phenotype comparisons both within and across species to identify new animal models of human disease.

Find out more: https://monarchinitiative.org/

Origins of Bone Cartilage Disease Project

An international collaboration identifying genetic causes of bone and cartilage disease.

Find out more: http://www.boneandcartilage.com/gallery.html

Rare Disease Foundation

The French Foundation for Rare Diseases (FFRD) is a non-profit organization of scientific cooperation. Its missions are to accelerate research for all rare diseases by supporting research and researchers. The granted projects concern decrypting diseases, assist in diagnosis by identifying the cause of diseases, help develop new treatments, and improving daily rare disease patient and family life.

Find out more: http://www.phenomin.fr/en-us/services/disease-investigation/18/

RIKEN MetaDatabase

The RIKEN BioResource partners provide IMPC data in a Resource Description Framework (RDF) via the RIKEN MetaDatabase.

Find out more: http://metadb.riken.jp/

UK Biobank

UK Biobank is a major national and international health resource, and a registered charity in its own right, with the aim of improving the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses – including cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression and forms of dementia.

It is following the health and well-being of 500,000 volunteer participants and provides health information, which does not identify them, to approved researchers in the UK and overseas, from academia and industry.

The UK Biobank and the IMPC collaborate to identify and develop integrated analyses of genes for specific traits.

Find out more: https://www.ukbiobank.ac.uk/

Undiagnosed Disease Network (UDN)

The Undiagnosed Disease Network (UDN) is a NIH funded project consisting of clinical and research centers across the United States that are working to improve diagnosis and care of patients with undiagnosed diseases.

The UDN aims to bridge the gap between clinical care and research, use genetic data to try to find diagnoses, work with researchers to figure out how diseases affect the body, which may lead to treatments, and train other doctors, nurses, genetic counsellors, and scientists to use this new approach.

The UDN uses IMPC data and mouse models to assist diagnoses via approaches such as Exomiser. Our phenotype data can provide evidence to support the pathogenicity of variants associated with rare and undiagnosed diseases cases. Our mouse models provide resources for functional studies for pathogenicity and therapeutic approaches.

Find out more: https://undiagnosed.hms.harvard.edu/

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