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Human Disease and Mouse Model Detail
Human Disease DiGeorge Syndrome; DGS
OMIM ID: 188400
Synonyms Chromosome 22q11.2 Deletion Syndrome; Hypoplasia of Thymus and Parathyroids
View all models View ALL (39) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     TBX1* Tbx1* View 22 models HomoloGene and HGNC
     ALDH1A2 Aldh1a2* View 1 model HomoloGene and HGNC
b2b954Clo* View 1 model
b2b1941Clo* View 1 model
CHRD Chrd* View 1 model HomoloGene and HGNC
CRKL Crkl* View 1 model HomoloGene and HGNC
DICER1 Dicer1* View 1 model HomoloGene
FGF8 Fgf8* View 1 model HomoloGene
FOXN1 Foxn1* View 1 model HomoloGene
HOXA3 Hoxa3* View 1 model HomoloGene
KAT6A Kat6a* View 2 models HomoloGene and HGNC
NDST1 Ndst1* View 1 model HomoloGene and HGNC
PLXND1 Plxnd1* View 1 model HomoloGene
pta* View 1 model
TGFBR2 Tgfbr2* View 1 model HomoloGene
VEGFA Vegfa* View 2 models HomoloGene and HGNC
     DGCR*  
Transgenes and
other genome features
Transgenes and other genome features developed in mice to model this disease.

     Transgenes and Other Genome Features Mouse Models
  Del(16Dgcr2-Hira)1Rak View 1 model
  Del(16Es2el-Ufd1l)217Bld View 1 model
References Disease References using Mouse Models (25)

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
08/25/2015
MGI 6.0
The Jackson Laboratory