Human Disease and Mouse Model Detail

Human Disease

Term: Atrial Septal Defect 1; ASD1
OMIM ID: 108800

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...

avc2	none identified
Cyr61	CYR61
Nkx2-5	NKX2-5
Ntf3	NTF3
pta	none identified
Tbx20	TBX20

...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 diseases where etiology is unknown or involving genes where ortholog is unknown.¹
avc2/avc2		involves: C57BL/6J * FVB/N	J:163196
Cyr61^tm1Lfl/Cyr61⁺		involves: 129S4/SvJae * C57BL/6J	J:126490
Nkx2-5^tm4Rph/Nkx2-5⁺ Tbx20^tm1.1Rph/Tbx20⁺		involves: 129S1/Sv	J:98489
Ntf3^tm1Par/Ntf3^tm1Par		involves: 129S1/Sv	J:35639
pta/pta		C57BL/6J-pta	J:94456

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.

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