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Human Disease and Mouse Model Detail
Human Disease Velocardiofacial Syndrome
OMIM ID: 192430
Human Phenotype Ontology associations
Synonyms Chromosome 22q11.2 Deletion Syndrome; Shprintzen Vcf Syndrome; VCF Syndrome; VCFS
View all models View ALL (12) 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 5 models HomoloGene and HGNC
     b2b1941Clo* View 1 model
CHRD Chrd* View 1 model HomoloGene and HGNC
CRKL Crkl* View 1 model HomoloGene and HGNC
EDNRA Ednra* View 1 model HomoloGene
MAPK1 Mapk1* View 1 model HomoloGene
PRICKLE1 Prickle1* View 1 model HomoloGene
     DGCR2* Dgcr2   HomoloGene and HGNC
DGCR6*, LOC102724770   HomoloGene
DGCR8* Dgcr8   HomoloGene
DGCR14* Dgcr14   HomoloGene
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
References Disease References using Mouse Models (9)

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 6.05
The Jackson Laboratory