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 23, this portal
contains information for 1,435 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.
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 pairs 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.
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 published in
Disease Models & Mechanisms, June 2024
The data shown in the figure, described in the manuscript, and previously displayed in this app
corresponding to DR 20.1 are available at
https://zenodo.org/records/15489406
