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Human Disease and Mouse Model Detail
Human Disease Rigid Spine Muscular Dystrophy 1; RSMD1
OMIM ID: 602771
Human Phenotype Ontology associations
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

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     SEPN1* Sepn1* View 1 model HomoloGene and HGNC
References Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory