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Human Disease and Mouse Model Detail
Human Disease Williams-Beuren Syndrome; WBS
OMIM ID: 194050
Human Phenotype Ontology associations
Synonyms Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb; Williams Syndrome; WMS; WS
View all models View ALL (18) 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
     BAZ1B Baz1b* View 4 models HomoloGene and HGNC
CLIP2 Clip2* View 1 model HomoloGene and HGNC
DLG4 Dlg4* View 1 model HomoloGene and HGNC
EIF4H Eif4h* View 1 model HomoloGene and HGNC
FZD9 Fzd9* View 2 models HomoloGene and HGNC
GTF2I Gtf2i* View 2 models HomoloGene and HGNC
GTF2IRD1 Gtf2ird1* View 4 models HomoloGene and HGNC
LIMK1 Limk1* View 1 model HomoloGene and HGNC
     ELN* Eln   HGNC
MLXIPL* Mlxipl   HomoloGene and HGNC
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(5Gtf2i-Fkbp6)1Vcam View 1 model
References Disease References using Mouse Models (16)

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
09/13/2016
MGI 6.05
The Jackson Laboratory