• The number of human diseases modeled by mice with mutations in this gene and the total number of human diseases associated with the human gene.
• A table of human diseases associated with the gene. The Human Disease name links to the MGI Disease Ontology Browser record and the IDs link to a popup of of IDs associated with the disease, linked to the appropriate source, when possible. Examples are DO IDs, OMIM IDs, and ICD-9 codes. 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.) Click the View link to see a popup summary of those models.
  • 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.
• The total number of Mutations/alleles of the gene with disease annotations linked to a summary of the alleles of the gene with disease model annotations
• The number of References with disease annotations for the gene, linked to a summary report for those references.

• A Phenotype Summary of all alleles and annotations and counts of phenotypic allele categories of mutant alleles
• Phenotype Images: links to the Phenotype Images associated with this Gene report with every phenotype image in MGI for the gene.
• Phenotype References: links to a summary listing of all the references curated to alleles of the gene.
• A Phenotype Overview displays the highest-level terms from the Mammalian Phenotype (MP) Ontology and uses blue cells to mark those with phenotypic annotations to genotypes with alleles of the gene. Some high-level terms such as normal phenotype, other phenotype, and no phenotypic analysis aren't represented in this Overview but annotations to those terms and their subterms will be displayed in the Phenotype Summaries and Allele Detail pages. Click on a blue cell to see the genotypes annotated to the term and the corresponding lower-level terms. You can find even more detail by then clicking on a genotype's blue cell. This will show curator notes and the appropriate reference. Darker blue cells on the genotype grid indicate more supporting evidence. Note that phenotypes associated with paralogs are shown in the popups when both genes have annotated phenotypes in the same system. However, cells are only colored blue when the gene of interest has phenotype annotations in that system.
• Counts of All mutations and alleles and phenotypic allele categories of mutant alleles. See Selecting Phenotypic Allele Categories for definitions of allele types.
• Incidental Mutations with links to data from the mutagenesis projects. Incidental mutations have been detected via sequencing but have not yet been confirmed. They may or may not affect the phenotype. Click on one of the project links, such as Mutagenetix or APF (The Australian Phenomic Facility), to access the provider's data. Stocks can be ordered from the providers. See Selecting Phenotypic Allele Categories for a list of mutagenesis projects.
• A link to Find Mice (IMSR). The International Mouse Strain Resource (IMSR) is a searchable online database of mouse strains, stocks, and mutant ES cell lines available worldwide. The IMSR does not house any stocks but if you follow this link to the IMSR it will search for stocks with mutations in this marker from several providers. In your IMSR search results, the Strain Name links to the repository's site, the Repository links to an e-mail form so you can ask about or order the stock and the Allele Symbol links to the MGI Allele Detail page. The IMSR search may also find stocks with incidental mutations in this and many other genes.
• A link to a Comparison Matrix of Gene Expression and Phenotype data that allows you to view endogenous wild-type gene expression along with the tissues where mutations in that gene have phenotypic effects.
• A Recombinase Activity link that allows you to view recombinase alleles driven by the featured mouse gene (or its homologs) that have reported activity data. This links to a Recombinase Activity Comparison Matrix which allows you to compare endogenous wild-type gene expression with reported recombinase activity data for each allele.
• A short summary of phenotypes observed in mice with mutant alleles of the gene

• All GO classifications (# annotations) links to a summary of the nn annotated items found (click here for information about interpreting the fields on this page). You can browse the GO vocabulary from the query results section and locate multiple terms that annotate a gene record.
• GO References: the number of references with functional (GO) annotations for the gene, linked to a summary report for those references.
• A link to any External Resources (for example, FuncBase, a database of functional predictions) for additional information about this gene.
• A graphical representation of GO annotations to select high-level ontology terms. Click on a blue cell to see more specific, lower-level, annotations and supporting references. The three categories of the Gene Ontology describe the Molecular Function, Biological Process, and Cellular Component of the gene product.

Depending on availability, some or all of the following information may appear:

• The Expression Overview provides a high-level summary of expression data associated with the gene. It is displayed when there are detailed data associated with the gene and the grid headers in the database. The grid headers are select EMAPA terms from early development and physiological/organ systems.
  • The mouse over for grid cells reports the total number of annotations to that term or its substructures. Click on a grid cell to open a tissue x stage matrix in a new browser window. This matrix will display an overview of all the annotations to that header term and its children.
  • Blue cells indicate there is at least one positive, wild type result annotated to the EMAPA header term (or its substructures).
  • A gray triangle indicates there are annotations associated with the term or its substructures in the database but that none of these results show expression in wild-type mice. Specifically, the expression level of these results is either absent/not specified/ambiguous and/or the results were derived from mutant specimens. [Note: for in situ reporter (knock in) assays, heterozygotic specimens carrying the reporter allele are considered wild type.]
  • White cells indicate no annotations of any kind to that header or its substructures.
  • Note: There are some genes with detailed expression results which do not have an expression overview grid. This is because none of its expression annotations use terms that are among the headers or their substructures. This happens most frequently when few details are provided about the tissue analyzed and the curators use the highest level terms in EMAPA (embryo or mouse) for the annotations.
• Data Summaries - each number links to a summary report:
  • All Results - expression results; links to details
  • Tissues - anatomical structures where expression was analyzed; summary report details whether or not expression was detected. This report does not include RNA-Seq data.
  • cDNA data - the number of cDNA clones for this marker, linked to summary report that includes source data for those clones
  • Literature Summary - number of references analyzing expression for this gene, linked to reference details and a table of the ages and assay types analyzed
  • Images - images associated with results; summary report displays thumbnails of any associated figures; links to full-size images
  • Tissue x Stage Matrix - displays a grid with a spatio-temporal overview of the expression pattern of this gene.
• A link to a Comparison Matrix of Gene Expression and Phenotype data that allows you to view endogenous wild-type gene expression along with the tissues where mutations in that gene have phenotypic effects.
• Other Mouse links: links to expression information for this marker in other databases: Allen Brain Atlas, GENSAT, gene microarray profile pages at GEO, and Expression Atlas at EBI.
• Other Vertebrate links: links to expression information for chicken homologs at GEISHA, frog homologs at Xenbase, and zebrafish homologs at ZFIN.

• If a marker is associated with UniProt sequences, the numbers of such associations appear, linked to separate Mouse Sequence Summary Reports for all sequences of that type.
• Links to Protein Ontology for those genes with mappings to PRO IDs
• EC (Enzyme Commission) ID
• List of InterPro domain IDs & descriptions for protein sequences encoded by the gene. The ID links to the InterPro detail page for the domain at the EBI.

• All nucleic, Genomic, cDNA, Primer pair, Other: link is to Molecular Probes and Clones Query Results -- Summary.
• Microarray probesets: link is to Microarray Probeset Summary.

• All the references for the marker, linked to a listing on the summary report page.
• The Disease, Expression, Gene Ontology and Phenotype annotation references, linked to a summary listing of just those references.
• Details of one selected reference, linked to its detail page.
• Details of the earliest and latest references, linked to their detail pages.