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Human Disease and Mouse Model Detail
Human Disease Schwartz-Jampel Syndrome, Type 1; SJS1
OMIM ID: 255800
Synonyms Chondrodystrophic Myotonia; Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities; Schwartz-Jampel Syndrome; SJS; Schwartz-Jampel-Aberfeld Syndrome; SJA Syndrome
View all models View ALL (4) 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
     Hspg2* HSPG2* View 4 models 1:1 Homology
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
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory