This help document answers the following questions:
The Human Disease and Mouse Model Detail lists genes in human and/or mouse homologs that may be associated with this disease.
Some or all of the following information appears in a Human Disease and Mouse Model Detail report. If there is no information, the sentence There are currently no human or mouse genes associated with this disease in the MGI database appears.
|Human Disease | Synonyms | View all models | Associated Genes | Transgenes | Mouse Models | Complex Models|
|Synonyms||A semicolon delimited list of any synonyms for the disease (e.g., paralysis agitans)|
|View all models||The total number of mouse models for this disease, linked to their genotypes, references and phenotypes. See: Mouse Models below.|
|Genes and mouse models||A list of all mouse and human genes where mutations in one or both species are associated with phenotypes characteristic of this human disease. Mouse and human icons categorize the associated genes by the following conditions:
Links to additional information on genes, genotypes and phenotypes:
An asterisk (*) next to a gene symbol identifies a gene associated with the disease in that species.
|Transgenes and other genome features||This section may be present if there are transgenes or other mutation types in mouse associated with this human disease phenotype. The Mouse Models column shows the number of transgene or other mutation type mouse models associated with the human disease and links to a pop-up window with references and genotype and phenotype data.|
Models: A table of all models with phenotypic similarity to the disease. Models are organized into the following categories:
|Disease Term||The disease term associated with the model. This column includes child terms of the selected term indicated at the top of the Disease Ontology Browser page.|
|Allelic Composition||Allele pairs that contribute to the genotype. Each allele is linked to its corresponding Phenotypic Allele Detail report.|
|Genetic Background||Mouse strains involved, if described.|
|Reference||The supporting reference linked by its MGI reference number to the MGI Reference Detail report containing the full citation.|
|Phenotypes||Links to the phenotypic details for the genotype.|
|Additional Complex Models||This section appears only when clicking the link to View all models and will only be present if there are models for which there are no endogenous disease-associated mouse or human genes. For each allelic combination, the genetic background, references and a link to phenotypic details are provided.|
|Disease phenotype not observed||This section appears only when clicking the link to View all models and only when the reference's authors looked for but found no similarity to the expected human disease phenotype in the mouse genotype specified. For each allelic combination, the genetic background, references and link to phenotypic details are provided.|
Human disease associations to human genes are from the NCBI mim2gene_medgen file and include annotations from OMIM and NCBI. Human disease associations to mouse genes are from MGI curated data and are only made when the genotype of at least one mouse model allows for a clear gene to disease relationship to be determined.