IMPC Disease Models Portal

About

The Disease Models Portal contains information on the International Mouse Phenotyping Consortium (IMPC) mouse knockouts orthologues of human disease associated genes and the phenotypic similarity between them computed by the PhenoDigm algorithm.

The mouse knockout data including mouse line information and the associated abnormal phenotypes assessed through the phenotyping pipeline can be accessed through the IMPC portal .The human phenotype annotations corrsponding to OMIM and Orphanet disorders used in the pipeline were obtained from the Human Phenotype Ontology (HPO) resource.

At present, based on IMPC Data Release 20.1, this portal contains information for 1,311 mouse gene knockouts with a human orhtologue associated to disease with some sort of phenotypic overlap.

For more information on Methods and Datasets visit the 'Publication' tab.


Gene summary

Gene based search to display a summary of the information contained on this portal. Type the gene symbol in the Search Gene box. For more detailed information and access to the full dataset available, go to the 'Disease models' tab.

Search Gene


Last updated 07.05.2024

IMPC models of Mendelian disease


This table contains information on IMPC mouse knockout orthologs to human disease associated genes for which overlapping phenotypes were identified based on automated identification through the PhenoDigm algorithm. The information displayed here includes the IMPC mouse line description, human orthologue, associated OMIM/Orphanet disorder, Phenodigm percentage score, human (HPO) and mouse(MP) phenotypes contributing to the score.

For multiple search terms, use '|' between the words, e.g. syndrome|demise

Gene based information for human disease associated genes


IMPC Gene summary information for all the one-to-one mouse orthologues of Mendelian disease associated genes. It includes information on mouse lines that have entered the IMPC phenotyping pipeline,associated significant abnormal phenotypes, and whether a PhenoDigm score could be computed.

For multiple search terms, use '|' between the words, e.g. syndrome|demise

IMPC mouse knockouts of non-disease genes and their similarity with known Mendelian disorders


This table contains information on IMPC mouse knockout orthologs to human genes without a known disease association according to OMIM/Orphanet. The PhenoDigm algorithm computes the similarity between the IMPC mouse phenotypes and the human phenotypes of known disorders. Only mouse model - disease paiars with a PhenoDigm score > 40 are displayed here. The information shown in the table below includes the IMPC mouse line description, human orthologue, OMIM/Orphanet disorder, Phenodigm percentage score, and both the human (HPO) and mouse (MP) phenotypes contributing to the score.

For multiple search terms, use '|' between the words, e.g. syndrome|demise

Disease Models manuscript

A manuscript entitled 'Computational identification of disease models through cross-species phenotype comparison' that describes the methods and data presented in the app has been submitted.

For more information visit the IMPC portal