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Human Disease and Mouse Model Detail
Human Disease Spondyloepiphyseal Dysplasia Congenita; SEDC
OMIM ID: 183900
Synonyms SED Congenita; Spondyloepiphyseal Dysplasia; Spondyloepiphyseal Dysplasia, Congenital Type
View all models View ALL (6) 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
     Col2a1* COL2A1* View 4 models 1:1 Homology
     Hapln1* HAPLN1 View 1 model 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
  Tg(Col2a1*R789C)#Waho View 1 model
References Disease References using Mouse Models (5)

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
11/11/2014
MGI 5.20
The Jackson Laboratory