ArticleDisease models & mechanisms2025
Expanding and refining the Mammalian Phenotype Ontology to enhance disease model discovery.
Article in Disease models & mechanisms, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Data-driven prioritization of mouse strains for improved preclinical modeling of rare and common disease.bioRxiv : the preprint server for biology · 2026Article
- International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease.Nucleic acids research · 2026Article
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Authors and funding
5 authors.
Funding
Abstract
The mouse is a premier model system for investigating gene function and modeling human disease. For almost 40 years, Mouse Genome Informatics has worked to capture and integrate the data generated from mouse studies. A critical component of this integration is the development and use of the Mammalian Phenotype (MP) Ontology to capture the morphological and physiological effects of alterations to gene function in the mouse. As the wealth of phenotype data captured using the MP has expanded, its utility in the diagnosis of human disease has increased. Tools have been developed to use mouse and human phenotypes in variant identification. To enhance the applicability of the MP in disease diagnosis and increase the ability of researchers to find models for specific research questions, we have undertaken a disease-focused expansion of the MP. In addition, we have worked to improve the alignment of the MP to the Human Phenotype Ontology to make automated translation between mouse and human phenotypes easier and more reliable.
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Registered trials
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