Generation, cryopreservation and phenotyping of murine mutants model of human diseases, Infrafrontier-Emma European infrastructure
CNR has established and developed at the A. Buzzati-Traverso Campus in Monterotondo the European Mouse Mutant Archive (EMMA) Core Structure and Monterotondo Mouse Clinic (MMC), as advanced international infrastructures for the life sciences, in collaboration with the leading, European and extra-European biomedical research Institutions. The EMMA Core Structure and MMC are devoted to large-scale, standardized production, primary and specialized phenotypic analysis, cryopreservation and dissemination of novel murine mutant models of human diseases with their bioinformatics resources.
The EMMA Core Structure and MMC are essential component of the INFRAFRONTIER network infrastructure, a Landmark Project of the European Strategy Forum on Research Infrastructures (ESFRI) Roadmap and a selected project of the Italian Ministry of Research’s Roadmap and National Programme on Research Infrastructures (PNIR). CNR-EMMA, Monterotondo is the Italian co-founder and partner of INFRAFRONTIER.
The Monterotondo Mouse Clinic is linked to INFRAFRONTIER’s main mission on systemic phenotyping and operates in the context of the International Mouse Phenotyping Consortium (IMPC) a G7 Science Ministers’ Mature Global Initiative, which CNR-MMC, Monterotondo has joined in 2011, as the Italian Consortium’s Partner.
CNR staff members at INFRAFRONTIER-EMMA Core Structure and MMC actively pursue and develop an ample variety of collaborative research projects with other CNR, EMBL groups at the Monterotondo Campus, as well as other leading research groups at national and international level. These studies focus on the design, production and functional characterization of mutant strains, as ad hoc innovative in vivo modelling of diseases and related phenotypic traits, such as sensory defects, neurodegenerative and neurological diseases, aging pathologies, developmental defects, cancer genesis and progression, etc. In the context of the IMPC global initiative, the CNR Monterotondo group is also contributing to the advanced international collaborative network for large-scale, standardized design, production, primary phenotyping and dissemination of phenotypically-characterized mutant strains for each gene of the mouse genome.
Detailed genotypic, phenotypic descriptions and publication references for more than 760 mutant strain models, so far produced and/or imported, archived and publicly distributed by the CNR Monterotondo group, are available at
- Infrafrontier-EMMA website
- Infrafrontier-EMMA archive page on IBBC website
- The Jackson Laboratory – Mouse Genome Informatics website
- IMPC website
The Infrafrontier-EMMA and MMC infrastructures are selectively supported by CNR, as detailed in its Activity Plans (in Italian).
Since the initial establishment in 1996, the EMMA and then Infrafrontier Infrastructure Consortia have gained continued financial support by the European Union’s Framework Programmes 4 to 7 and Horizon2020/HorizonEurope.
The whole Infrafrontier-EMMA international network currently has more than 8000 distinct mutant strain models archived and available for distribution, while over 7000 strain requests from scientists world-wide have so far been served.
European Strategy Forum on Research Infrastructures (ESFRI)