Human Disease and Mouse Model Detail

Human Disease

Term: Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant; EDMD2
OMIM ID: 181350

Synonyms

Emd2; Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant; Muscular Dystrophy with Early Contractures and Cardiomyopathy, Autosomal Dominant; Scapuloilioperoneal Atrophy with Cardiopathy

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...

Lmna

LMNA

...both mouse and human orthologous genes.

Zmpste24

ZMPSTE24

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Lmna^tm1Gbon/Lmna^tm1Gbon		involves: 129S2/SvPas * C57BL/6	J:95528
Lmna^tm1Stw/Lmna^tm1Stw		involves: 129S1/Sv	J:58702
Models with phenotypic similarity to human disease where etiologies are distinct.²
Zmpste24^tm1Lotn/Zmpste24^tm1Lotn		involves: 129P2/Ola * C57BL/6	J:76209

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not 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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