Human Disease and Mouse Model Detail

Human Disease

Term: 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

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Sepn1

SEPN1

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Sepn1^tm1.2Mred/Sepn1^tm1.2Mred		involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL	J:176499

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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