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Human Disease and Mouse Model Detail
Human Disease Rigid Spine Muscular Dystrophy 1; RSMD1
OMIM ID: 602771
Synonyms Desmin-Related Myopathy with Mallory Bodies; Minicore Myopathy, Severe Classic Form; Multicore Myopathy, Severe Classic Form; Multiminicore Disease, Severe Classic Form; Muscular Dystrophy, Congenital, Eichsfeld Type; Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity; MDRS1; Myopathy, Sepn1-Related; Rigid Spine Syndrome; RSS
View all models View ALL (1) 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
     Sepn1* SEPN1* View 1 model 1:1 Homology

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
04/08/2014
MGI 5.17
The Jackson Laboratory