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Human Disease and Mouse Model Detail
Human Disease Spondyloepiphyseal Dysplasia Congenita; SEDC
OMIM ID: 183900
Human Phenotype Ontology associations
Synonyms SED Congenita; Spondyloepiphyseal Dysplasia; Spondyloepiphyseal Dysplasia, Congenital Type
View all models View ALL (9) 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
     COL2A1* Col2a1* View 8 models HomoloGene and HGNC
     HAPLN1 Hapln1* View 1 model 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(Col2a1*R789C)#Waho View 1 model
References Disease References using Mouse Models (7)

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 6.07
The Jackson Laboratory