Human Disease and Mouse Model Detail

Human Disease

Term: Cardiomyopathy, Dilated, 1C; CMD1C
OMIM ID: 601493

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...

Ldb3

LDB3

...both mouse and human orthologous genes.

Myl2

MYL2

...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
Ldb3^tm4Chen/Ldb3^tm4Chen Tg(Myh6-cre/Esr1*)1Jmk/0	2	involves: 129S1/Sv * 129X1/SvJ * Black Swiss * FVB	J:144739
Ldb3^tm4Chen/Ldb3^tm4Chen Myl2^tm1(cre)Krc/Myl2⁺	2	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss	J:144739

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Conditionally targeted allele(s)

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