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

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Search by genome locations
Ex: Chr12:3000000-10000000

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or phenotype terms
Ex: diabetes, 105830

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Upload a VCF File:
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

If your file contains SNP IDs in column 3 and you wish to include those rows in the search, please edit the file to remove the IDs (leaving column 3 empty). Save as a tab-delimited file in a format other than Unicode.

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.

Spotlight on mouse models
of human disease
Human T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy (OMIM: 601705)

Humans and mice homozygous for recessive mutations in the FOXN1 (forkhead box N1) gene display common phenotypes:

  • congenital alopecia
  • absent thymus
  • severe T-cell immunodeficiency
  • nail dystrophy
  • limited lifespan

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 5.17
The Jackson Laboratory