Human Disease and Mouse Model Detail

Human Disease

Term: Myopathy, Myofibrillar, 1; MFM1
OMIM ID: 601419

Synonyms

Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly; ARVC7, FORMERLY; Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly; ARVD7, FORMERLY; Cardiomyopathy, Dilated, 1f and Limb-Girdle Muscular Dystrophy Type 1d, Formerly; Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy; CDCD3, FORMERLY; Cmd1f and Lgmd1d, Formerly; Desminopathy, Primary; Desmin-Related Myopathy; DRM; Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy; Inclusion Body Myopathy 1, Autosomal Dominant, Formerly; IBM1, FORMERLY; Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy; Myopathy, Myofibrillar, Desmin-Related

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...

Des

DES

...both mouse and human orthologous genes.

Ldb3

LDB3

...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
Des^tm1Cap/Des^tm1Cap		involves: 129S7/SvEvBrd * C57BL/6	J:35123
Models with phenotypic similarity to human disease where etiologies are distinct.²
Ldb3^tm1Chen/Ldb3^tm1Chen		involves: 129S1/Sv * 129X1/SvJ * Black Swiss	J:72799

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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