Interpreting Human Disease and Mouse Model Details

This help document answers the following questions:

• What information is in a disease detail report?
• How do I interpret a disease detail report?
• How are gene to disease associations made?

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's Disease) Disease Ontology ID: Disease Ontology accession identifier, linked to Disease Ontology record for the disease (e.g., DOID:14330)
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: The disease is associated with both the mouse and human homologs of the same gene. Mouse genes may appear in this section based on disease models that express homologs of the mouse gene. Mouse models involving mutations in the mouse gene or expressing homologs of the mouse gene are associated with this human disease. (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 Human Homologs link to the Alliance of Genome resources page for the human gene. 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 of 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. 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:

1. Mouse models where at least one of the mouse genes and its homologous human gene are associated with this human disease. Mouse genes may appear in this section based on disease models that express homologs of the mouse gene.
2. Mouse models involving mutations in the mouse gene or expressing homologs of the mouse gene are associated with this human disease. (OMIM and NCBI data currently do not associate this disease with the homologous human gene.)
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.

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.

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How are gene to disease associations made?

Human disease associations to human genes are from the Alliance of Genome Resources Homo sapiens associations disease file and include annotations from OMIM, Rat Genome Database (RGD), 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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