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Symbol
Name
ID
Actn2
actinin alpha 2
MGI:109192
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Cardiomyocyte hypertrophy
Left ventricular hypertrophy
Endocardial fibroelastosis
Endocardial fibrosis
Left ventricular noncompaction
Dilated cardiomyopathy
Hypertrophic cardiomyopathy
Myofiber disarray
Cardiomegaly
Cardiac arrest
Atrial fibrillation
Supraventricular tachycardia
Atrioventricular block
Congestive heart failure
Disease(s) Associated with ACTN2
congenital myopathy 8
dilated cardiomyopathy 1AA

Mouse Phenotypes
cardiovascular system phenotype
abnormal pulmonary trunk morphology
aorta stenosis
abnormal heart morphology
abnormal heart left atrium morphology
perimembraneous ventricular septal defect
abnormal pulmonary valve morphology
thick pulmonary valve cusps
decreased heart left ventricle wall thickness
abnormal heart right ventricle morphology
abnormal cardiovascular system physiology
abnormal fetal cardiomyocyte physiology
decreased fetal cardiomyocyte proliferation
Availability Mouse Genotype
Actn2em1Kage/Actn2em1Kage
Actn2em1Kage/Actn2+ *

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory