Response to Growing Discussion on Genetic Quality Control
A recent Science policy proposal by Fernando Pardo-Manuel de Villena and colleagues, and the wider discussion that followed, have highlighted the importance of genetic quality control for increasing rigor and reproducibility in mouse research. INFRAFRONTIER/EMMA welcomes this renewed attention. Genetic background, allele identity, breeding history and transparent strain information all influence how mouse models can be interpreted, reproduced and used responsibly.
As the public European mouse repository, EMMA has long been aware of these issues. Our mission is to preserve and share mutant mouse lines for the research community and support the 3Rs, with cryopreservation helping to prevent genetic drift. We also support users with clear information on quality control, known limitations and good practice, including recommendations for model validation and the choice of appropriate control groups.
Genetic quality control is a shared responsibility. Depositors, repositories, users, vendors, institutions, funders, reviewers and editors all contribute to the reliability of mouse-based research. Clear communication is therefore essential: repositories can preserve, curate and distribute materials, but robust research also depends on accurate information supplied with submitted lines, appropriate validation by users and transparent reporting in publications.
INFRAFRONTIER/EMMA colleagues played a leading role in developing the international LAG-R guidelines, which supports transparent reporting of the genetic makeup of laboratory animal models. A recent perspective by INFRAFRONTIER partners further emphasizes that better training, model characterization and documentation of genetic validation are essential to improve reproducibility. INFRAFRONTIER has also published quality principles for systemic phenotyping and, through EMMA, a quality framework for the archiving and distribution of cryopreserved rodent models. Together, these initiatives reflect our commitment to reproducibility, robust metadata curation, FAIR data, continuous improvement and ethical use of animals in biomedical research.
A substantial part of the INFRAFRONTIER/EMMA resource originates from the International Mouse Phenotyping Consortium (IMPC) or consists of lines generated by European mouse clinics, where model generation and characterization followed standardized workflows with strict attention to genetic background. Community-submitted strains can have more complex or incompletely documented breeding histories and may require different levels of information, validation and expectation management. This diversity means that quality information must be specific, transparent and interpreted in context.
INFRAFRONTIER has already contributed to this area through Epilot genetic validation services in European project contexts, and some EMMA partners have conducted practical pilots. Building on these experiences, EMMA agrees with the need to strengthen awareness and is working with its distributed network to define practical routes toward genetic background testing in selected repository workflows. Detailed implementation will require coordination across the distributed EMMA network and sustainable approaches that reflect the realities of public research infrastructures.
Our aim is to combine preservation, transparent information, targeted quality measures and community education, so that users can make informed decisions and mouse resources remain as robust and useful as possible. The current discussion is a challenge, but also an opportunity for the whole community to improve how mouse models are documented, validated, shared and used.