This help document answers the following questions:
What information is in a disease detail report?
Searching or browsing on a term returns information in the Human Disease and Mouse Model Detail report for any disease, synonym, or accession identifier in the Vocabulary.
How do I interpret a disease detail report?
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.
| Field | Description |
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| Human Disease |
| Term: | Full name of the syndrome as it appears in the Human Disease Vocabulary (e.g., Parkinson Disease) |
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| Symbol: | OMIM symbol for the disease (e.g., PD) |
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| ID: | OMIM accession identifier, linked to OMIM record for the disease (e.g., 168600) |
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| Synonyms | A semicolon delimited list of any synonyms for the disease (e.g., Parkinsonism) |
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| Associated Genes |
A list of all mouse and human markers where mutations in one or both species are associated with phenotypes characteristic of this human disease. Mouse and human gene symbols appear by side, categorized by one of the following conditions, when met:
- Mutations in both mouse and orthologous human genes are associated with this human disease phenotype.
- Mutations in the mouse but not in the human gene are associated with this human disease phenotype. (OMIM data currently do not associate this diesase with the orthologous human gene.)
- Mutations in the human gene. MGI may not contain evidence that a mutation in a mouse gene presents a model for a disease, yet if the mouse gene is orthologous to a human gene associated with a disease, it is listed as a disease ortholog.
Links:
- The mouse gene links to its MGI Gene Detail report. Here you can find data about everything known about the marker in the MGI database: synonyms, genetic and sequence maps (including the MGI Mouse Genome Browser), mammalian orthology, representative sequences, phenotypes, gene ontology classifications, expression, references, protein domains, references, as well as links to related databases.
- The human gene links to the MGI Mammalian Orthology Query Results report where you can view orthology criteria and assertion references and follow additional links (in the AccID column) to mammalian databases such as OMIM, Entrez Gene, HGNC.
- None identified appears in the Human Gene column when no human genes are annotated with this disease; however, the Mouse Gene link (to the MGI Gene Detail report) is active.
- None identified appears in the Mouse Gene column when there are no mouse genes annotated with this disease, and there is no link to the Mammalian Orthology Query Results report.
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| Transgenes and other mutation types | If there are transgenes or other mutation types (in mouse) associated with this human disease phenotype, this row appears, listing the transgene(s). |
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| Mouse models | List of all mouse genotypes annotated to the disease. Results are sorted into five categories (if there is no result, a category does not appear) for models with:
- Phenotypic similarity to human disease and etiologies involving orthologs (the human ortholog of the mouse gene is associated with the same disease). The mouse model genotypes listed include mutations in the orthologs of these human genes. If a genotype appears in this category, it is not associated with any of the other four categories except transgenes or other mutation types.
- Phenotypic similarity to human disease but a distinct etiology i.e., human genes are associated with this disease. The mouse model genotypes listed do not include mutations in the orthologs of these human genes.
- Phenotypic similarity to human diseases with unknown etiology or involving genes where the human ortholog is unknown.
- Transgenes or other mutation types (appears only if there are human diseases annotated to an allele of a non-gene marker).
- No similarity to the expected human disease phenotype.
| Genotype |
| Allelic Composition | Allele pairs that contribute to the genotype and the mouse strain background. Each allele is linked to its corresponding Phenotypic Allele Detail report. |
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| Genetic Background | Mouse strains involved, if known. Any numerical character following the strain indicates that additional information appears at the bottom of the table. Not indicates that the reference's author(s) looked for but found no similarity to the expected human disease phenotype in the mouse genotype specified.
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| Ref(s) | The supporting reference linked by its MGI reference number to the MGI Reference Detail report containing the full citation. |
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Interpreting Human Disease and Mouse Model Details