Human Disease and Mouse Model Detail

Human Disease

Term: Cardiomyopathy, Familial Hypertrophic, 4; CMH4
OMIM ID: 115197

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...

Mybpc3

MYBPC3

...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
Mybpc3^tm1.1Jse/Mybpc3^tm1.1Jse		Not Specified	J:58295
Mybpc3^tm1Jse/Mybpc3^tm1Jse		Not Specified	J:58295
Mybpc3^tm1Lcrr/Mybpc3⁺		involves: 129S4/SvJae * Black Swiss	J:101903
Mybpc3^tm1Rmos/Mybpc3^tm1Rmos		either: (involves: 129) or (involves: 129 * C57BL/6)	J:95725

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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