Document Type

Article

Publication Date

10-1-2025

Keywords

Animals, Phenotype, Humans, Disease Models, Animal, Mice, Biological Ontologies, Mammals

JAX Source

Dis Model Mech. 2025;18(10):dmm052385.

ISSN

1754-8411

PMID

40963406

DOI

https://doi.org/10.1242/dmm.052385

Grant

The Mouse Genome Database is supported by program project grant HG000330 from the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH). Support for the pediatric disease work came from Gabriella Miller Kids First grant OD033657 from the NIH Office of the Director. Support for the COVID-19 work was from The Jackson Laboratory. L.C.C. was funded by the HPO NGHRI grant HG011449. Open Access funding provided by The Jackson Laboratory.

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.

Creative Commons License

Creative Commons Attribution-No Derivative Works 4.0 International License
This work is licensed under a Creative Commons Attribution-No Derivative Works 4.0 International License.

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