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

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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

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 Genes File (.txt):
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 5.20
The Jackson Laboratory