Gene Summary

Name:
actin alpha 2, smooth muscle, aorta
Synonyms:
SMAalpha,  0610041G09Rik,  SMalphaA,  Actvs,  a-SMA,  alphaSMA

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart weight Acta2em1(IMPC)H HOM Early adult 2.05×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Acta2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Acta2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Acta2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fibromuscular Dysplasia, Arterial
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... OMIM:135580
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Aortic Aneurysm, Familial Thoracic 4
Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Thoracic aortic a... OMIM:132900
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Moyamoya Disease 1
Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy OMIM:252350
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot OMIM:615779
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia, Abnormal aortic morphology ORPHA:3222
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Abnormal cardiovascula... ORPHA:289601
Congenital Heart Defects, Multiple Types, 7
Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmon... OMIM:618780
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Left ventricular outflow tract obstruction, Pulmonic stenosis, Coa... OMIM:613854
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal descending aorta morphology, Left ventricular outflow tract obstruction, Anomalous origi... ORPHA:99050
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Hypertension, Myocardial infarction, Congestive heart failure OMIM:614473
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Anomalous pulmonary venous return, Left ventricular outflow tract obstruction, Tac... ORPHA:860
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ... OMIM:185500
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Fixed Subaortic Stenosis
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... ORPHA:3092
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Angina pectoris, Anomalous pulmonary venous return, Atrial arrhyth... ORPHA:1330
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Left ventricular outflow tract obstruction, Tetralogy of Fallot, Aortic re... OMIM:614980
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular failure, Ar... OMIM:178600
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aorta Coarctation
Stroke, Coarctation of the descending aortic arch, Tetralogy of Fallot, Pulmonary arterial hypert... ORPHA:1457
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:91387
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Thoracic aorta calcification, Ascending aortic dissection, Coarctation of ... ORPHA:402075
Moyamoya Disease
Telangiectasia, Abnormal cerebral vascular morphology ORPHA:2573
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Tricuspid Atresia
Transposition of the great arteries, Persistent left superior vena cava, Coarctation of aorta, Pu... ORPHA:1209
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Thoracic aortic aneurysm, Aortic arch aneurysm, Hypoperistalsis,... OMIM:613834
Analbuminemia
Patent ductus arteriosus, Hypotension OMIM:616000
Erythrocytosis, Familial, 2
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Transposition of the great arteries, Patent ductus arteriosus, Coarctation of aorta, Truncus arte... OMIM:612474
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Coarctation of aorta, Ventri... OMIM:613426
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Cardiac Valvular Dysplasia 2
Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpitations, Systolic heart... OMIM:620067
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Intermittent claudication, Bl... ORPHA:2299
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta ORPHA:101028
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... OMIM:217095
Homozygous Familial Hypercholesterolemia
Angina pectoris, Premature arteriosclerosis, Peripheral arterial stenosis, Abnormal left ventricu... ORPHA:391665
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic regurgitation, Ascending aortic dissection, Aortic root ... OMIM:619825
Cardiac Diverticulum
Angina pectoris, Tricuspid stenosis, Palpitations, Arrhythmia, Tetralogy of Fallot, Syncope, Abno... ORPHA:1686
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Abnormal T-wave, Aortic valve stenosis, Thor... ORPHA:3093
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Pulmonic stenosis, Patent ductus arteriosus, Coarctation of aorta OMIM:618164
Snakebite Envenomation
Stroke, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, ... ORPHA:449285
Scimitar Syndrome
Double outlet right ventricle, Anomalous pulmonary venous return, Left-to-right shunt, Left super... ORPHA:185
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Hypoplastic Left Heart Syndrome
Mitral stenosis, Hypoplastic aortic arch, Patent ductus arteriosus ORPHA:2248
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Mitral regurgitation, Coarctation of abdominal aorta, Cardiomyopathy OMIM:226100
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot ORPHA:261243
Adult Acute Respiratory Distress Syndrome
Hypotension, Shock, Vasculitis ORPHA:70578
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Coarctation of aorta OMIM:614300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1166
Perry Syndrome
Hypotension ORPHA:178509
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Double Outlet Right Ventricle
Double outlet right ventricle, Pulmonic stenosis, Tachycardia, Coarctation of aorta, Tetralogy of... ORPHA:3426
Holt-Oram Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Paroxysmal atrial fibrillation, Abno... ORPHA:392
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... ORPHA:99147
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Aortic valve stenosis, Pulmonary artery stenosis, Aortic tortuosity... OMIM:208050
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Absence Of The Pulmonary Artery
Systolic heart murmur, Tachycardia, Abnormal coronary artery morphology, Tetralogy of Fallot, Coa... ORPHA:980
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Aortic dissection, Mucoid extracellular matrix accumulation OMIM:130090
Nipah Virus Disease
Hypotension ORPHA:99825
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension ORPHA:99828
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension ORPHA:79455
Neuroendocrine Tumor Of The Colon
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Facial tel... ORPHA:100080
Buschke-Ollendorff Syndrome
Hypertension, Abnormal aortic morphology ORPHA:1306
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta OMIM:616559
Truncus Arteriosus
Abnormal heart valve physiology, Abnormal superior vena cava morphology, Single coronary artery o... ORPHA:3384
Craniofaciofrontodigital Syndrome
Stroke, Aortic valve stenosis, Anomalous branches of internal carotid artery, Mitral regurgitatio... ORPHA:363705
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... OMIM:212138
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Abnormal carotid artery morphology, Myocarditis, Myocardial infarctio... ORPHA:3342
Neuroendocrine Tumor Of The Rectum
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... ORPHA:100082
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Dysbetalipoproteinemia
Angina pectoris, Peripheral arterial stenosis, Premature coronary artery atherosclerosis, Aortic ... ORPHA:412
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Coarctation of aorta, Tricuspid regu... ORPHA:1120
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556037
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Single coronary artery origin, Pulmonic stenosis, Double aortic ar... OMIM:619702
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta OMIM:614857
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Transposition of the great arteries, Pulmonary art... ORPHA:251071
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Right Atrial Isomerism
Pulmonic stenosis, Tetralogy of Fallot, Pulmonary artery atresia, Total anomalous pulmonary venou... OMIM:208530
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556030
Diabetic Embryopathy
Abnormality of the pulmonary artery, Transposition of the great arteries, Tetralogy of Fallot, Ab... ORPHA:1926
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Pulmonic stenosis, Patent ductus arteriosus, Coarctation of aorta ORPHA:284169
Meningococcal Meningitis
Shock, Stroke, Hypotension ORPHA:33475
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogenic shock, Hypotension,... ORPHA:97287
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic atherosclerotic lesion, Intracranial hemorrhage, Mitral regurgitati... ORPHA:363618
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Meester-Loeys Syndrome
Mitral regurgitation, Dilatation of the cerebral artery, Pulmonary artery aneurysm, Aortic dissec... OMIM:300989
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... ORPHA:542323
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension OMIM:264350
Transaldolase Deficiency
Telangiectasia, Patent ductus arteriosus, Coarctation of aorta OMIM:606003
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Congenitally corrected transposition of the great arteries with ve... OMIM:617205
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Patent ductus arteriosus, Va... OMIM:606519
Systemic Capillary Leak Syndrome
Hypotension, Pericarditis, Arrhythmia, Myocarditis ORPHA:188
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Neuroendocrine Tumor Of Stomach
Melena, Hematemesis, Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogeni... ORPHA:100075
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Premature ventricular contraction, Tricuspid regurgitation, Mitral regurgitation, Coarctation of ... OMIM:620066
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Hypertension, Coarctation of aorta, Atrioventricular block ORPHA:371428
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Alport Syndrome
Hypertension, Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm ORPHA:63
Mastocytosis
Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia, Hypotension ORPHA:98292
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, Aortic regurgitation, Conotrunc... ORPHA:96147
Meacham Syndrome
Anomalous pulmonary venous return, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fall... ORPHA:3097
Scrub Typhus
Hypotension, Myocarditis ORPHA:83317
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Microphthalmia, Syndromic 9
Pulmonic stenosis, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresia, Patent du... OMIM:601186
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Coarctation of aorta OMIM:618929
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Aa Amyloidosis
Hypotension ORPHA:85445
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Tetralogy of Fallot ORPHA:261183
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Abnormal venous morphology, Aortic dissection, Vascular dilatation, Arterial... ORPHA:1900
Phaver Syndrome
Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia ORPHA:2876
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal aortic arch morphology, Patent ductus arteriosus, Persistent left... ORPHA:2306
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Tachycardia, Coarctation of aorta, Dilated cardiomyopathy, Pulmonary arteri... OMIM:614921
Colchicine Poisoning
Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive heart failure ORPHA:31824
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Loeys-Dietz Syndrome 4
Aortic tortuosity, Arterial tortuosity, Aortic dissection, Aortic root aneurysm, Ascending tubula... OMIM:614816
Noonan Syndrome 2
Mitral stenosis, Pulmonic stenosis, Coarctation of aorta, Abnormal coronary artery origin, Patent... OMIM:605275
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100077
Loeys-Dietz Syndrome
Arterial dissection, Arterial tortuosity, Aortic dissection, Patent ductus arteriosus, Vascular d... ORPHA:60030
Pagod Syndrome
Sudden cardiac death, Arrhythmia, Pulmonary artery hypoplasia, Abnormality of the pulmonary arter... ORPHA:991
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Cholera
Tachycardia, Stroke, Hypotension, Hypovolemic shock ORPHA:173
Noonan Syndrome 10
Mitral stenosis, Pulmonic stenosis, Mitral regurgitation, Coarctation of aorta, Patent ductus art... OMIM:616564
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Hypotension ORPHA:98850
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Coarctation of aorta, Tetr... OMIM:608978
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, Pulmonary arterial hyperten... ORPHA:2396
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Whipple Disease
Hypotension, Myocarditis, Myocardial infarction, Gastrointestinal hemorrhage, Pericarditis ORPHA:3452
Acrocardiofacial Syndrome
Truncus arteriosus, Mitral stenosis, Coarctation of aorta, Tetralogy of Fallot ORPHA:2008
Legionnaires Disease
Hypotension, Pericarditis, Arrhythmia, Myocarditis ORPHA:549
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial reentry tachycardia, Dextrotransposition of the great arter... OMIM:270100
Congenital Enterovirus Infection
Hypotension, Cardiomyopathy, Myocarditis ORPHA:292
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary lymphangiectasia, Pulmonary insufficiency, Right-to-left shunt, Coarctation of aorta, T... OMIM:265380
Congenital Hypothyroidism
Hypertension, Arrhythmia, Hypotension ORPHA:442
Duodenal Neuroendocrine Tumor
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... ORPHA:100076
Cleft Palate, Cardiac Defects, And Mental Retardation
Achalasia, Coarctation of aorta OMIM:600987
Ethylene Glycol Poisoning
Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT interval, Conges... ORPHA:31826
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Hemorrhagic Fever-Renal Syndrome
Melena, Hematemesis, Intracranial hemorrhage, Tachycardia, Palpitations, Hypotension, Shock, Inte... ORPHA:340
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Kleefstra Syndrome
Pulmonary artery stenosis, Arrhythmia, Coarctation of aorta, Tetralogy of Fallot ORPHA:261494
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Tricuspid reg... ORPHA:99125
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Patent ductus arteriosus, Coarctation of aorta OMIM:617260
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Melena, Abnormal left ventricular function, Hemoperitoneum, Subdural hemorrh... ORPHA:99827
Hellp Syndrome
Internal hemorrhage, Cerebral hemorrhage, Hypotension ORPHA:244242
Acute Adrenal Insufficiency
Stroke, Orthostatic hypotension, Hypovolemia, Hypotension, Myocardial infarction ORPHA:95409
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmonary collateral arteries, Pulmonary ... OMIM:620025
Oculoectodermal Syndrome
Transient ischemic attack, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Coarctation of ... OMIM:600268
Lysosomal Acid Lipase Deficiency
Stroke, Hypovolemia, Hypotension, Bone-marrow foam cells, Coronary artery atherosclerosis, Pulmon... ORPHA:275761
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Varicose veins OMIM:618343
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Tricuspid regurgitation, Pulmonic stenosis, Mitral regurgit... OMIM:617506
Marfan Syndrome
Aortic tortuosity, Ascending aortic dissection, Arterial dissection, Pulmonary artery dilatation,... ORPHA:558
Aneurysm-Osteoarthritis Syndrome
Pulmonic stenosis, Mitral regurgitation, Arterial dissection, Arterial tortuosity, Abdominal aort... ORPHA:284984
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Arrhythmia, Hypotension ORPHA:2135
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Coarctation of aorta, Tetralogy of Fallot OMIM:617159
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta OMIM:614114
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Thoracic aortic aneurysm, Pulmonic stenosis, Mitral regurgitation, Ao... OMIM:613795
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Tetralogy of Fallot ORPHA:2059
Fg Syndrome Type 1
Pulmonary arterial hypertension, Coarctation of aorta ORPHA:93932
Mucopolysaccharidosis Type 2, Severe Form
Peripheral arterial stenosis, Arrhythmia, Heart murmur, Abnormal aortic morphology, Hypertension,... ORPHA:217085
Poliomyelitis
Hypertension, Hypotension, Hypovolemic shock ORPHA:2912
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Mucopolysaccharidosis Type 2, Attenuated Form
Peripheral arterial stenosis, Arrhythmia, Heart murmur, Abnormal aortic morphology, Hypertension,... ORPHA:217093
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Mitral regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture OMIM:614557
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Loeys-Dietz Syndrome 2
Carotid artery dilatation, Generalized arterial tortuosity, Pulmonary artery aneurysm, Ascending ... OMIM:610168
Kabuki Syndrome 2
Pulmonic stenosis, Coarctation of aorta OMIM:300867
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Bacterial Toxic-Shock Syndrome
Tachycardia, Hypotension, Myocarditis, Shock, Capillary leak ORPHA:36234
Heterotaxy, Visceral, 1, X-Linked
Double outlet right ventricle, Mitral stenosis, Pulmonic stenosis, Left superior vena cava draini... OMIM:306955
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Brad... ORPHA:94093
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Coarctation of aorta, Abnormal aortic morphology ORPHA:1052
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary artery OMIM:600460
Gitelman Syndrome
Palpitations, Prolonged QT interval, Ventricular tachycardia, Hypotension OMIM:263800
Autosomal Dominant Hypocalcemia
Arrhythmia, Hypotension, Congestive heart failure ORPHA:428
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Coarctation of aorta OMIM:300514
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Arrhythmia, Abnormal aortic morphology, Hypertension, Cardiomyopathy ORPHA:580
Generalized Arterial Calcification Of Infancy
Stroke, Medial calcification of medium-sized arteries, Arterial calcification, Calcification of t... ORPHA:51608
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Coarctation of aorta OMIM:618454
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Lujo Hemorrhagic Fever
Hypotension, Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia ORPHA:319213
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Mitral regurgitation, Coarctation of aorta, Aortic regurgit... ORPHA:90348
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta OMIM:617602
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Pituitary Apoplexy
Hypertension, Hypotension ORPHA:95613
Holoprosencephaly
Arrhythmia, Abnormal aortic morphology, Tetralogy of Fallot ORPHA:2162
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Palpitations, Hypotension, Heart murmur ORPHA:100079
Marfan Syndrome
Tricuspid regurgitation, Mitral regurgitation, Aortic regurgitation, Pulmonary artery dilatation,... OMIM:154700
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Phace Syndrome
Abnormal carotid artery morphology, Coarctation of aorta, Tetralogy of Fallot, Abnormal cerebral ... ORPHA:42775
Hepatocellular Carcinoma
Budd-Chiari syndrome, Hypotension, Internal hemorrhage, Portal hypertension, Venous insufficiency ORPHA:88673
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy ORPHA:17
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension ORPHA:199299
Fanconi Anemia
Arteriovenous malformation, Abnormal carotid artery morphology, Tetralogy of Fallot, Patent ductu... ORPHA:84
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Mosaic Trisomy 1
Coarctation of aorta, Pulmonary artery atresia ORPHA:1692
Maternal Phenylketonuria
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot ORPHA:2209
Alexander Disease
Hypertension, Sudden cardiac death, Hypotension ORPHA:58
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Stroke, Abnormal internal carotid artery morphology, Pulmonic stenosi... ORPHA:97685
Hardikar Syndrome
Hematemesis, Coarctation of aorta, Partial anomalous pulmonary venous return, Patent ductus arter... OMIM:301068
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Aortic regurgitation, Coarctation of aorta, Tetralogy of Fallot ORPHA:508498
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Peripheral arteriovenous fistula, Arteriovenous fistulas of celiac an... ORPHA:286
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Coarctation of aorta, Congestive heart failure OMIM:105650
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Sinus tachycardia, ... ORPHA:466650
Myhre Syndrome
Aortic valve stenosis, Hypertension, Patent ductus arteriosus, Coarctation of aorta OMIM:139210
Prolactinoma
Hypotension ORPHA:2965
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Distal Monosomy 15Q
Mitral stenosis, Double outlet right ventricle with doubly committed ventricular septal defect an... ORPHA:1596
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Marburg Hemorrhagic Fever
Hypovolemia, Tachycardia, Hypotension, Shock, Internal hemorrhage, Subconjunctival hemorrhage, Pe... ORPHA:99826
Igg4-Related Kidney Disease
Arteritis, Abnormal aortic morphology, Pericarditis ORPHA:449395
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Subconjunctival hemorrhage, Pe... ORPHA:509
Opitz Gbbb Syndrome
Persistent left superior vena cava, Patent ductus arteriosus, Aortic root aneurysm, Coarctation o... ORPHA:2745
Autosomal Recessive Robinow Syndrome
Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1507
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Viss Syndrome
Double outlet right ventricle, Carotid artery dilatation, Tortuous cerebral arteries, Abnormal br... OMIM:619472
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Mosaic Trisomy 16
Patent ductus arteriosus, Single coronary artery origin, Coarctation of aorta ORPHA:1708
Ctcf-Related Neurodevelopmental Disorder
Mitral regurgitation, Pulmonary hemorrhage, Coarctation of aorta, Patent ductus arteriosus, Pulmo... ORPHA:363611
Turner Syndrome Due To Structural X Chromosome Anomalies
Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Myocardial infarction, Aortic di... ORPHA:99413
Turner Syndrome
Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Myocardial infarction, Aortic di... ORPHA:881
Mosaic Monosomy X
Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Myocardial infarction, Aortic di... ORPHA:99228
Monosomy X
Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Myocardial infarction, Aortic di... ORPHA:99226
Acute Liver Failure
Gastrointestinal hemorrhage, Intracranial hemorrhage, Shock, Hypotension ORPHA:90062
Osteogenesis Imperfecta
Cerebral hemorrhage, Arterial dissection, Aortic regurgitation, Aortic dissection, Aortic root an... ORPHA:666
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2308
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Coarctation of aorta, Tetralogy of Fallot OMIM:618748
Smith-Lemli-Opitz Syndrome
Coarctation of aorta, Patent ductus arteriosus, Ventricular fibrillation, Hypertension, Hypertrop... OMIM:270400
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval, Coarctation of aorta ORPHA:1772
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Stroke, Coarctation of aorta, Tetralogy of Fallot, Renal ar... OMIM:118450
Addison Disease
Orthostatic hypotension, Hypotension ORPHA:85138
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Pulmonic stenosis, Coarctation of aorta, Patent ductus arteriosus, Cardiac... ORPHA:353281
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Coarctation of aorta, Tetralogy of Fallot OMIM:274000
Robinow Syndrome
Pulmonic stenosis, Coarctation of aorta ORPHA:97360
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Esophageal Atresia
Coarctation of aorta, Tetralogy of Fallot ORPHA:1199
Noonan Syndrome 1
Pulmonic stenosis, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Coarctation of aorta OMIM:163950
Rubinstein-Taybi Syndrome 1
Coarctation of aorta, Patent ductus arteriosus, Persistent left superior vena cava, Vascular ring... OMIM:180849
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Meckel Syndrome, Type 1
Patent ductus arteriosus, Coarctation of aorta, Vascular dilatation OMIM:249000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Aortic valve stenosis, Pulmonic stenosis, Coarctation of a... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Aortic valve stenosis, Pulmonic stenosis, Coarctation of a... ORPHA:353277
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypovolemia, Shock, Hypotension ORPHA:90794
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Coarctation of aorta OMIM:619480
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Coarctation of aorta, Tetralogy of Fallot OMIM:210710
Blackfan-Diamond Anemia
Radial artery aplasia, Coarctation of aorta ORPHA:124
Plague
Tachycardia, Arrhythmia, Hematemesis, Hypotension ORPHA:707
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Coarctation of aorta OMIM:617088
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta, Tetralogy of Fallot ORPHA:2044
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
8Q24.3 Microdeletion Syndrome
Coarctation of aorta, Patent ductus arteriosus, Gastrointestinal hemorrhage, Hypoplastic aortic a... ORPHA:508488
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Pulmonic stenosis, Pulmonary artery sling, Coarctation of aorta, Tetralogy... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Pulmonic stenosis, Pulmonary artery sling, Coarctation of aorta, Tetralogy... ORPHA:261537
Pallister-Hall Syndrome
Patent ductus arteriosus, Coarctation of aorta ORPHA:672
Mowat-Wilson Syndrome
Aortic valve stenosis, Pulmonic stenosis, Pulmonary artery sling, Coarctation of aorta, Tetralogy... ORPHA:2152
Kabuki Syndrome 1
Coarctation of aorta OMIM:147920
Pallister-Killian Syndrome
Aortic valve stenosis, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Coarctation of aorta OMIM:601803
Craniofacial Microsomia
Right aortic arch, Patent ductus arteriosus, Coarctation of aorta, Tetralogy of Fallot OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Acta2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Acta2.

No publications found that use IMPC mice or data for Acta2.

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MGI Allele Allele Type Produced
Acta2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Acta2em1(IMPC)H Indel Mice
Acta2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Acta2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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