Marina Kan from EMBL-EBI is presenting "Large-Scale Genotype-Phenotype Mapping through the International Mouse Phenotyping Consortium".

Damian Smedley from Queen Mary University of London is presenting "Exomiser: automated ACMG classification and phenotype-driven genomic analysis"

Two IMPC colleagues will be presenting their posters at the upcoming Genomics of Rare Disease conference at the Wellcome Genome Campus, so please check them out, if you're there! Their poster numbers are the corresponding numbers on the abstract handbook.

The identification of a gene previously unknown to be associated with neurodevelopmental disorders demonstrates the value of this kind of screen for gene discovery.

CRISPR knockout screens reveal genes and pathways essential for neuronal differentiation

Check out this paper in which they screened differentiating mouse embryonic stem cells to identify hundreds of essential genes & a variant of PEDS1 in patients with microcephaly

www.nature.com/articles/s41...

IMPC Data Release 24 Now Available with over 4.5 Million Data Points  | IMPC | International Mouse Phenotyping Consortium The IMPC is pleased to announce the launch of Data Release 24! With this latest release, we are now providing more than 138 million data points to the research community worldwide. This release includes phenotyping data for 9,605 genes from 10,341 mutant lines, adding approximately 4.5 million new data points. The total number of phenotype calls is 111,664 in this release.  As with every release, Data Release 24 not only […]

🚨 Data Release 24 is out! 🚨

With this latest release, we are now providing more than 138 million data points, including phenotyping data for 9,605 genes from 10,341 mutant lines!

Find out more:

www.mousephenotype.org/news/impc-da...

#mousegenetics #data #IMPC #genetics

Measuring the Scientific Impact of IMPC: How IMPC Resources Innovate Research   | IMPC | International Mouse Phenotyping Consortium Over the years IMPC resources have contributed to numerous scientific publications including publications by the consortium members themselves as well as other researchers using IMPC generated mouse models and data. Tracking publication metrics can provide insights about the importance of IMPC as a resource as well as the wide range of research fields it contributes to.   Influence metrics tracked via NIH iCite show up until January 2026, IMPC has contributed to 8,423 peer-reviewed publications, showing […]

In our latest news post, we share some metrics that demonstrate the scientific impact of the IMPC. For example, did you know that papers containing IMPC contributions have accumulated more than 393,000 citations?!

Rare Disease Day 2026 | IMPC | International Mouse Phenotyping Consortium Rare diseases are defined by their low prevalence — often fewer than 1 in 2,000 people — yet collectively affect hundreds of millions worldwide. These conditions are frequently genetic, complex, and under‑researched, with many patients facing long diagnostic journeys and limited treatment options. Rare Disease Day, observed every year on 28 February, raises global awareness of rare conditions and […]

On #RareDiseaseDay, we want to celebrate the contributions of our member laboratories to rare disease research through systematic mouse genetics, including through collaboration with the European Joint Programme on Rare Diseases.

Read more:

www.mousephenotype.org/blog/2026/02...

Inclusion in the BIA means that these images are now available to the wider image analysis community as reference datasets for AI method development. Each submission includes experimental protocols, instrument details, and gene information linked to mutant lines to ensure data is FAIR.

IMPC Images Now in Long-Term Image Archive | IMPC | International Mouse Phenotyping Consortium The IMPC has collected over 850,000 images (DR23, April 2025) derived from systematic phenotyping of wild-type and mutant mouse lines. The collection spans multiple imaging modalities, including X-Ray, slit lamp eye imaging, Optical Coherence Tomography, light microscopy, microCT reconstructions of embryos, and histological sections, and has contributed to identification of candidate mouse models for more […]

IMPC Images Now in Long-Term Image Archive!

To ensure long-term image preservation, we've deposited over 640,000 X-ray and eye morphology images in The BioImage Archive, a permanent repository for image data:

Today we are celebrating the achievements and endeavours of women and girls in science and want to recognise the contributions of many female scientists to the work of the IMPC!

#InternationalDayOfWomenAndGirlsInScience

Inclusion in the BIA means that these images are now available to the wider image analysis community as reference datasets for AI method development. Each submission includes experimental protocols, instrument details, and gene information linked to mutant lines to ensure data is FAIR.

IMPC Images Now in Long-Term Image Archive | IMPC | International Mouse Phenotyping Consortium The IMPC has collected over 850,000 images (DR23, April 2025) derived from systematic phenotyping of wild-type and mutant mouse lines. The collection spans multiple imaging modalities, including X-Ray, slit lamp eye imaging, Optical Coherence Tomography, light microscopy, microCT reconstructions of embryos, and histological sections, and has contributed to identification of candidate mouse models for more […]

IMPC Images Now in Long-Term Image Archive!

To ensure long-term image preservation, we've deposited over 640,000 X-ray and eye morphology images in The BioImage Archive, a permanent repository for image data:

www.mousephenotype.org/news/impc-im...

By analysing optical sections from 2987 embryos from 484 homozygous lines, they identified 44 novel genes implicated in palatogenesis. These findings will help us better understand rare human congenital disorders that involve craniofacial defects such as cleft palate.

Identification of novel genes regulating the development of the palate:
Check out this paper from Ashwin Bhaskar and Sophie Astrof of Rutgers University where they use IMPC-generated 3D image data sets to screen for genes involved in palatogenesis
anatomypubs.onlinelibrary.wiley.com/doi/10.1002/...

Endothelial RNF20 suppresses endothelial-to-mesenchymal transition and safeguards physiological angiocrine signaling to prevent congenital heart disease Heart morphogenesis and function rely on intricate communication among distinct cardiac cell types. How their co-development and crosstalk are coordinated is largely unexplored. Our study unveils key functions of the histone H2B ubiquitin (H2Bub1) ...

Check out this new paper that shows that RNF20 maintains endothelial identity, regulates TGF-β signaling, and promotes angiocrine Nrg1 expression, ensuring normal cardiomyocyte growth and function.

pmc.ncbi.nlm.nih.gov/articles/PMC...

IMPC survey: Completing the catalogue of mammalian gene function and defining future priorities IMPC is currently evaluating its future production and phenotyping priorities. To date, IMPC has focused on protein coding genes with human orthologs and little to no functional annotation, also referred to as “dark genes”. To date, the International Mouse Phenotyping Consortium- IMPC [which includes the NIH-funded Knockout Mouse Phenotyping Program (KOMP2)] has produced knockout mouse lines for 11,208 unique genes and conducted comprehensive phenotyping on 9,774 knockout lines, representing 9,073 genes. All data is accessible at www.mousephenotype.org and mice are available to order from public mouse repositories [e.g., Mutant Mouse Resource and Research Center (MMRRC)]. The purpose of this survey is to ascertain your level of interest and enthusiasm for IMPC to continue its production and phenotyping of knockout mouse lines for the remaining human orthologous genes in the mouse genome. In addition, this survey seeks your input on the scientific value of IMPC producing and phenotyping allele types other than knockouts. As a representative of your field of research, please consider and answer the following 9 questions…think broadly! Thank you for participating in this brief 10 minute survey.

There's still time to complete our survey and help us define our future priorities!

A New IMPC Paper Highlights Updates the Data Resource and Web Portal  | IMPC | International Mouse Phenotyping Consortium A new consortium paper, ‘International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease’ by Wilson et al. (2025), published in Nucleic Acid Research, reports on the growth of the data resource and the improvements to the web portal. These changes allow for an easier use of the website […]

🚀 New IMPC Paper!

A new paper in Nucleic Acid Research describes improvements to the IMPC web portal that makes the data ever more accessible and easier to integrate with other resources, while highlighting the relevance to human disease.

IMPC survey: Completing the catalogue of mammalian gene function and defining future priorities IMPC is currently evaluating its future production and phenotyping priorities. To date, IMPC has focused on protein coding genes with human orthologs and little to no functional annotation, also referred to as “dark genes”. To date, the International Mouse Phenotyping Consortium- IMPC [which includes the NIH-funded Knockout Mouse Phenotyping Program (KOMP2)] has produced knockout mouse lines for 11,208 unique genes and conducted comprehensive phenotyping on 9,774 knockout lines, representing 9,073 genes. All data is accessible at www.mousephenotype.org and mice are available to order from public mouse repositories [e.g., Mutant Mouse Resource and Research Center (MMRRC)]. The purpose of this survey is to ascertain your level of interest and enthusiasm for IMPC to continue its production and phenotyping of knockout mouse lines for the remaining human orthologous genes in the mouse genome. In addition, this survey seeks your input on the scientific value of IMPC producing and phenotyping allele types other than knockouts. As a representative of your field of research, please consider and answer the following 9 questions…think broadly! Thank you for participating in this brief 10 minute survey.

📢 Survey Open: Help Shape the Future of the IMPC!
We have recently launched a survey titled “Completing the Catalogue of Mammalian Gene Function and Defining Future Priorities.”
The results will be presented during the January Strategic Conference.
docs.google.com/forms/d/e/1F...

The Mutant Mouse Resource and Research Centers newsletter keeps researchers informed about newly available mouse models, consortium updates, and advances that support reproducible science.

📬 Subscribe on the front page of MMRRC.org to stay connected to the resources shaping tomorrow’s research.

🚨 Important Announcement 🚨

Please be aware that due to planned maintenance our website will be unavailable from Friday 26th September (2pm) to Sunday 28th September (5pm). Apologies for any inconvenience.

7th CCP Phenogenomics conference 2025, Prague & on-line, 11-12 September

🚨 CCP Phenogenomics Conference in Prague on September 11–12, 2025

Main topics are rare diseases, experimental models and gene therapy development. Participation in the scientific sessions is free of charge for all academic attendees, but registration is required: www.ccp-conference.cz

Registration is open for the 2025 ARRIGE annual meeting, “Access and Affordability of Gene Therapies : Challenges for Genome Editing”, held at IGBMC, Strasbourg (France) & Online on October 28 & 29, 2025 (two half-days).

🔗 More information at bit.ly/3Utcpht
#impc #arrige #conference

Genome Browser Integration | IMPC | International Mouse Phenotyping Consortium The introduction of a genome browser on the gene and allele pages enables visualisation of how IMPC alleles impact gene models. By default, this tool shows the curated RefSeq gene models, but optional...

We are pleased to announce a genome browser that enables visualisation of how IMPC alleles impact gene models.
For more: bit.ly/4kyT4pN
#mousegenetics #data #IMPC #genetics

Training & Workshops | IMPC | International Mouse Phenotyping Consortium Training Workshops

IMPC learning and software resources are now easily accessible through the IMPC website. There are courses and workshops as well as tools developed by the IMPC community to help you utilise IMPC data.

📚 Training and Workshops: bit.ly/4ntcQG3

💻 Software: bit.ly/4ey7sNK

Read more: bit.ly/3Gh3c8I

Organoid News | Science News Organoid News is an online resource dedicated to the latest research about and featuring organoids.

Interested in staying current with the latest applications and discoveries using
#organoids? Subscribe to Organoid News by STEMCELL Science News to stay on top
of the latest publications, reviews, industry news, and more.

www.stemcellsciencenews.com/organoid-new...

✨ Your chance to impact IMPC's future is still here!

Take our survey to help us understand data usage and guide our future directions.

#phenotyping #data #ScientificResearch #FunctionalGenomics

Next week at the Training School, Silvia Mandillo will lecture on assessing motor function in mouse models—covering standard tests, home-cage monitoring, case studies, and the impact of sex and welfare on results.

#MouseModels #BehavioralNeuroscience @costprogramme.bsky.social #homecage

✨ The IMPC is at #ESHG25!
Don't miss on the presentation given by Diego Pava from Queen Mary on association of knockout mouse models to human rare diseases: The IMPC Disease Models Portal: Automated identification of mouse models for rare disease”
📅 May 24 | 🕡 6:30–6:45 PM
#RareDisease #Genomics

A graph theoretical approach to experimental prioritization in genome-scale investigations - Mammalian Genome The goal of systems biology is to gain a network level understanding of how gene interactions influence biological states, and ultimately inform upon human disease. Given the scale and scope of system...

A new study shows how minimum dominating set strategy can be used to help prioritise understudied genes for IMPC analysis highlighting its applicability to other large-scale studies. Read full paper here: link.springer.com/article/10.1...

#FunctionalGenomics #GenePrioritisation #SystemsBiology

We are co-organising Organoids Are Us 2025. Register now! | National Mouse Genetics Network The MRC National Mouse Genetics Network, in collaboration with the Cancer Research UK (CRUK) Scotland Institute, is organising Organoids Are Us 2025, a symposium that incorporates both basic and clini...

We are co-organising another international conference: Organoids Are Us is a symposium to report and discuss the latest advances in this exciting modality to tackle unanswered biological and clinical questions. For more info nmgn.mrc.ukri.org/news/we-are-...