About   Help   FAQ
Human Disease and Mouse Model Detail
Human Disease Beckwith-Wiedemann Syndrome; BWS
OMIM ID: 130650
Human Phenotype Ontology associations
Synonyms EMG Syndrome; Exomphalos-Macroglossia-Gigantism Syndrome
View all models View ALL (3) 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
     CDKN1C* Cdkn1c* View 2 models HGNC
     SPTBN1 Sptbn1* View 1 model HomoloGene and HGNC
     H19*   HGNC
IGF2* Igf2   HomoloGene and HGNC
KCNQ1* Kcnq1 View 1 model HomoloGene and HGNC
KCNQ1OT1* Kcnq1ot1   HGNC
NSD1* Nsd1   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
  Tg(YACW408A5)1952Ricc View 1 model
References Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.07
The Jackson Laboratory