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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

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Tbx1* TBX1* View 21 models 1:1 Homology
     Aldh1a2* ALDH1A2 View 1 model 1:1 Homology
b2b954Clo* View 1 model
b2b1941Clo* View 1 model
Chrd* CHRD View 1 model 1:1 Homology
Crkl* CRKL View 1 model 1:1 Homology
Dicer1* DICER1 View 1 model 1:1 Homology
Fgf8* FGF8 View 1 model 1:1 Homology
Foxn1* FOXN1 View 1 model 1:1 Homology
Hoxa3* HOXA3 View 1 model 1:1 Homology
Kat6a* KAT6A View 2 models 1:1 Homology
Ndst1* NDST1 View 1 model 1:1 Homology
Plxnd1* PLXND1 View 1 model 1:1 Homology
pta* View 1 model
Tgfbr2* TGFBR2 View 1 model 1:1 Homology
Vegfa* VEGFA View 2 models 1:1 Homology
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 (24)

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
11/18/2014
MGI 5.20
The Jackson Laboratory