Interpreting Human Disease and Mouse Model Details
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This help document answers the following questions:

What information is in a disease detail report?

The Human Disease and Mouse Model Detail lists genes in human and/or mouse homologs that may be associated with this disease.

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.

Human Disease | Synonyms | View all models | Associated Genes | Transgenes | Mouse Models | Complex Models
Field Description
Human Disease
Term:Full name of the syndrome as it appears in the Human Disease Vocabulary (e.g., Parkinson Disease); followed by the OMIM symbol for the disease (e.g., PD)
ID:OMIM accession identifier, linked to OMIM record for the disease (e.g., 168600)
SynonymsA semicolon delimited list of any synonyms for the disease (e.g., Parkinsonism)
View all modelsThe 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:
  • Mutations in both mouse and homologous 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 and NCBI data currently do not associate this disease with the homologous human gene.)
  • Mutations in the human gene are associated with this human disease phenotype. MGI may not contain evidence that a mutation in the mouse gene represents a model for this disease, if the mouse gene is homologous to a human gene associated with a disease, it is listed as a disease homolog.

Links to additional information on genes, genotypes and phenotypes:

  • The Mouse Homologs link to the MGI Gene Detail reports for each gene listed. There you can find data about everything known about the gene in the MGI database: synonyms, genetic and sequence maps (including the MGI Mouse Genome Browser), vertebrate homology, representative sequences, phenotypes, gene ontology classifications, expression, protein domains, references, as well as links to related databases.
  • The Mouse Models column shows the number of mouse models possessing an allele that row's gene. This links to a pop-up window with genotype information (strain background and alleles) and links to references and phenotype data.
  • The Mouse : Human Homology Class links to the MGI Vertebrate Homology Class report where you can view homology and mapping information for several species and follow additional links (in the Gene Links column) to databases such as OMIM, Entrez Gene and HGNC.

An asterisk (*) next to a gene symbol identifies a gene associated with the disease in that species.

Transgenes and other genome featuresThis 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.

The following sections appear as a pop-up window when you click on a link to View models associated with a mouse gene or as a new page when you click the link to View ALL models.

Mouse ModelsClicking the View ALL link produces a list of all mouse genotypes associated with the human disease. Genotypes are organized into the following categories:
  1. Mouse models where at least one of the mouse markers and its homologous human gene are associated with this human disease.
  2. Mouse models where at least one of the mouse markers is associated to the disease but the human homolog is not currently associated with this human disease.
  3. Mouse models where none of the mouse markers are associated to the disease but at least one of the human homologs is associated with this human disease.
  4. Transgenes or other mutation types appears when at least one of the non-gene mouse markers is associated with this human disease.
Allelic CompositionAllele pairs that contribute to the genotype. Each allele is linked to its corresponding Phenotypic Allele Detail report.
Genetic BackgroundMouse strains involved, if described.
ReferenceThe supporting reference linked by its MGI reference number to the MGI Reference Detail report containing the full citation.
PhenotypesLinks to the phenotypic details for the genotype.
Additional Complex ModelsThis 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 observedThis 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.

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How are gene to disease associations made?

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.

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