Human Disease and Mouse Model Detail

Human Disease

Term: Cardiomyopathy, Dilated, 1D; CMD1D
OMIM ID: 601494

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...

Tnnt2

TNNT2

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(Myh6-TNNT2*R141W)#Ajm

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Tnnt2^tm2Mmto/Tnnt2⁺			involves: 129S/SvEv * C57BL/6	J:137784
Tnnt2^tm2Mmto/Tnnt2^tm2Mmto			involves: 129S/SvEv * C57BL/6	J:137784
Models involving transgenes or other mutation types.²
Tg(Myh6-TNNT2*R141W)#Ajm/0			involves: C3H * C57BL/6 * ICR	J:161899
No similarity to the expected human disease phenotype was found.³
NOT	Tnnt2^tm1Mmto/Tnnt2⁺		involves: 129S/SvEv	J:141967

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.
³One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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