Human Disease and Mouse Model Detail

Human Disease

Term: Conotruncal Heart Malformations; CTHM
OMIM ID: 217095

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...

Cfc1

CFC1

...both mouse and human orthologous genes.

Ece1	ECE1
Ece2	ECE2

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

Gata6	GATA6
Gdf1	GDF1
Nkx2-5	NKX2-5
Nkx2-6	NKX2-6
Tbx1	TBX1

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Cfc1^tm1Cbm/Cfc1^tm1Cbm		Not Specified	J:58530
Models with phenotypic similarity to human disease where etiologies are distinct.²
Ece1^tm1Reh/Ece1^tm1Reh Ece2^tm1Ywa/Ece2^tm1Ywa		involves: 129S6/SvEvTac * C57BL/6J	J:62261
Ece1^tm1Reh/Ece1^tm1Reh		involves: 129S6/SvEvTac * C57BL/6J	J:62261

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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