HumanMouse: Disease Connection
Relating human diseases and mouse models
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Search by genes
Ex: Bmp4, Pax*, NM_013627

Enter symbols, names or IDs.
Use * for wildcard.
Search by genome locations

Ex: Chr12:3000000-10000000

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Use this converter tool.
Search by disease
or phenotype terms
Click "GO" to search by entered text without selecting a term from the list.

Ex: 105830, Autism AND "social behavior"

Use quotes for exact match. Hints for using AND, OR, NOT, quotes, partial word matching.

Effective Phenotype Query:
Phenotype/Disease Query Help

The Effective Phenotype Query below displays how the text you enter in the Search by disease or phenotype terms box will be interpreted for the search. This display is on by default but may be turned off by removing the check from the box.

For example if you want to find Autism models that have abnormalities in social behavior you would have typed:

  • 209850, AND, "social behavior"

The Effective Phenotype Query display for this would be:

  • (Autism - 209850 AND "social behavior")

Note, the commas that were inserted to facilitate the function of the auto-complete tool are removed prior to running your search.

The Effective Phenotype Query shows only what you type in the Search by disease or phenotype terms. Entries in the Search by genes and Search by genome locations boxes are not displayed in this area but will be Boolean ANDed to your criteria entered in the Search by disease or phenotype terms box.

VCF File Uploading Tips

The file upload functionality will be expanded in coming releases. For now, the following restrictions are in place:

  • Files are assumed to be in VCf v.4.0 or later format:
    • Column 1 = chromosome
    • Column 2 = coordinate
    • Column 3 = SNP ID (if any)
    • Column 7 = Filter value
  • Files over 25MB cannot be processed
  • Only the first 100,000 lines of a file can be processed
  • Lines containing a SNP ID (RS ID) in column 3 are rejected
    (emphasizing only unknown variants)
  • Lines containing values other than "pass", ".", or no value (null) in column 7 are rejected

The defaults filters remove known SNPs and low quality reads (final 2 bullet points above). If you do not want to use these filters, uncheck the "Apply Filters" box. Your file will then be reprocessed.

If your file is larger than 25MB or has more than 100,000 lines, please edit the file to break it into smaller files. Save as a tab-delimited file in a format other than Unicode.

Upload a VCF File:

Upload Genes File (.txt):
Spotlight on mouse models
of human disease
Brain small vessel disease with hemorrhage and with, or without, ocular abnormalities (OMIM:607595)

Humans and mice heterozygous for missense mutations in the COL4A1 (collagen, type IV, alpha 1 chain) gene display common phenotypes with variable penetrance, depending on the specific mutation observed:

  • intracranial hemorrhage [MP:0001915]
  • abnormal blood vessel morphology [MP:0001614]
  • abnormal retinal blood vessel pattern [MP:0010098]
  • partial perinatal lethality [MP:0011090]
  • cataracts [MP:0001304]

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory