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 4.13×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... OMIM:135580
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal coronary artery morphology, Congestive heart failure, Abnormal aor... ORPHA:3400
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... OMIM:615779
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Moyamoya Disease 1
Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy OMIM:252350
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... OMIM:618780
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial occlusion, Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Ab... ORPHA:289601
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Co... OMIM:614823
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Aortic tortuosity, Thoracic aortic aneurysm, Ascending aortic dissection OMIM:616166
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Congestive heart failure, Tetralogy of Fallot, Aorti... OMIM:614980
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Co... ORPHA:860
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresia, Abnormal descending a... ORPHA:99050
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Fixed Subaortic Stenosis
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... ORPHA:3092
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta, Hypertension OMIM:616069
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Atrial flutter, Tetralogy of Fallot, Transient ischemic attack, Palpitatio... ORPHA:1330
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Aorta Coarctation
Congestive heart failure, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persisten... ORPHA:1457
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellu... ORPHA:91387
Moyamoya Disease
Telangiectasia, Abnormal cerebral vascular morphology ORPHA:2573
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Thoracic aorta calcification, Aortic arch aneurysm, ... ORPHA:402075
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Analbuminemia
Hypotension, Patent ductus arteriosus OMIM:616000
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgit... OMIM:613426
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... ORPHA:1209
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Hypertensio... OMIM:613834
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Left axis deviation, Truncus arteriosus, Tra... OMIM:620294
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta ORPHA:101028
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Abnormal ascendin... ORPHA:2299
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta ... OMIM:619825
Conotruncal Heart Malformations
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... OMIM:217095
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Stroke, Tachycardia, Intracranial h... ORPHA:449285
Scimitar Syndrome
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Congestive heart failure, Anomalous ori... ORPHA:185
Cardiac Diverticulum
Aortic valve stenosis, Premature ventricular contraction, Arrhythmia, Ventricular fibrillation, P... ORPHA:1686
Hypoplastic Left Heart Syndrome
Hypoplastic aortic arch, Mitral stenosis, Patent ductus arteriosus ORPHA:2248
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
Perry Syndrome
Hypotension ORPHA:178509
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Mitral regurgitation, Cardiomyopathy OMIM:226100
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery ORPHA:1166
Homozygous Familial Hypercholesterolemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Calcification of the ao... ORPHA:391665
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Double Outlet Right Ventricle
Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Coarctation of a... ORPHA:3426
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Holt-Oram Syndrome
Atrioventricular block, Paroxysmal atrial fibrillation, Abnormal aortic morphology, First degree ... ORPHA:392
Nipah Virus Disease
Hypotension ORPHA:99825
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Abnormal EKG, Redu... ORPHA:980
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Neuroendocrine Tumor Of The Colon
Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta... ORPHA:100080
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Dengue Fever
Hypotension, Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage ORPHA:99828
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... OMIM:620300
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100082
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis OMIM:616559
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Abnormal cerebral vascular morphology, Conges... ORPHA:363705
Truncus Arteriosus
Aortic regurgitation, Interrupted aortic arch, Pulmonary artery hypoplasia, Arteria lusoria, Pulm... ORPHA:3384
Dysbetalipoproteinemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Angina pectoris, Type I... ORPHA:412
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Aortic root aneurysm, Generalized arterial tortuosit... OMIM:208050
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556037
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Bronchial Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:97287
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Coarctation of aorta, Patent ductus arteriosus, Anomalous pulmonary veno... ORPHA:1120
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Chromosome 5Q12 Deletion Syndrome
Hypotension, Patent ductus arteriosus OMIM:615668
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:614857
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556030
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Meningococcal Meningitis
Shock, Hypotension, Stroke ORPHA:33475
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic morphology, Pulmonary artery st... ORPHA:251071
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Coarctation of aorta, Patent ductus arteriosus, Pulmonic stenosis ORPHA:284169
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension OMIM:264350
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:188
Diabetic Embryopathy
Tetralogy of Fallot, Transposition of the great arteries, Abnormal aortic morphology, Abnormality... ORPHA:1926
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Tetralogy of Fallot,... OMIM:208530
Giant Cell Arteritis
Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric... ORPHA:397
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Neuroendocrine Tumor Of Stomach
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... ORPHA:100075
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta OMIM:620210
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... OMIM:617205
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... ORPHA:363618
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta, Patent ductus arteriosus OMIM:606003
Loeys-Dietz Syndrome 6
Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Transient isch... OMIM:619656
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension ORPHA:35708
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Atrioventricular block, Hypertension, Double outlet right ventricle ORPHA:371428
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Pulmonic stenosis OMIM:614300
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... OMIM:620066
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Alport Syndrome
Aortic aneurysm, Renal glomerular foam cells, Hypertension, Abnormal aortic morphology ORPHA:63
Infant Botulism
Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Aa Amyloidosis
Hypotension ORPHA:85445
Acute Radiation Syndrome
Telangiectasia, Hypotension ORPHA:454831
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Coarctation... ORPHA:96147
Meacham Syndrome
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Transpositi... ORPHA:3097
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Coarctation of aorta OMIM:618929
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta ORPHA:2876
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Congestive heart failure, Art... ORPHA:1900
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Coarctation of aorta, Pulmonary arterial hy... OMIM:614921
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Conot... ORPHA:2306
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Coarctation of aorta, Total anomalous pulmonary venous return ORPHA:261183
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Cholera
Stroke, Tachycardia, Hypotension, Hypovolemic shock ORPHA:173
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Persistent left superior vena cava, Coarctation of aorta OMIM:618494
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Aortic aneurysm, Vascular dilatation... ORPHA:60030
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Tetralogy of Fallot, Truncus arteriosus, Coarctati... OMIM:601186
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Dextrotransposition of the g... OMIM:270100
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Coarctation of aorta, Achalasia OMIM:600987
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Legionnaires Disease
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:549
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral stenosis, Coarctation of aorta, Patent ... OMIM:616564
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormal aortic morphology, Abnormality of the pulmonary artery, Arr... ORPHA:991
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Myocarditis, Myocardial infarction, Pericarditis ORPHA:3452
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta,... ORPHA:2396
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Pulmonic stenosis, Varicose veins OMIM:618343
Acrocardiofacial Syndrome
Tetralogy of Fallot, Coarctation of aorta, Mitral stenosis, Truncus arteriosus ORPHA:2008
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Hellp Syndrome
Hypotension, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Congenital Enterovirus Infection
Myocarditis, Hypotension, Cardiomyopathy ORPHA:292
Meacham Syndrome
Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Persistent left superior vena cava, Coa... OMIM:608978
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... OMIM:617506
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... ORPHA:340
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Kleefstra Syndrome
Tetralogy of Fallot, Pulmonary artery stenosis, Arrhythmia, Coarctation of aorta ORPHA:261494
Galloway-Mowat Syndrome 3
Coarctation of aorta, Hypertension OMIM:617729
Lysosomal Acid Lipase Deficiency
Hypotension, Coronary artery atherosclerosis, Stroke, Pulmonary arterial hypertension, Precocious... ORPHA:275761
Marfan Syndrome
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary art... ORPHA:558
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Interrupted aortic arch, Pulmonary artery dilatation, Right-to-left shunt, Tetralogy of Fallot, P... OMIM:265380
Acute Adrenal Insufficiency
Hypotension, Stroke, Orthostatic hypotension, Myocardial infarction, Hypovolemia ORPHA:95409
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Coarctation of aorta, Mitral stenosis OMIM:617260
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of ... ORPHA:284984
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Tricuspid regurgita... ORPHA:99125
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmo... OMIM:620025
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta OMIM:614114
Fg Syndrome Type 1
Coarctation of aorta, Pulmonary arterial hypertension ORPHA:93932
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus OMIM:617159
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension ORPHA:2912
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... OMIM:306955
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Abnormal aortic morphology, Arrhythmia, Peripheral arterial stenosis, Heart murmu... ORPHA:217085
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology ORPHA:2059
Loeys-Dietz Syndrome 3
Aortic regurgitation, Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatat... OMIM:613795
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... OMIM:610168
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Abnormal aortic morphology, Arrhythmia, Peripheral arterial stenosis, Heart murmu... ORPHA:217093
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Bacterial Toxic-Shock Syndrome
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Lujo Hemorrhagic Fever
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Kabuki Syndrome 2
Coarctation of aorta, Pulmonic stenosis OMIM:300867
Toriello-Carey Syndrome
Cardiomyopathy, Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Pulmonic ste... ORPHA:3338
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Coarctation of aorta, Abnormal aortic morphology ORPHA:1052
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Patent ductus arter... OMIM:600268
Gitelman Syndrome
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia OMIM:263800
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Neuroendocrine Neoplasm Of Appendix
Hypotension, Tricuspid stenosis, Palpitations, Heart murmur ORPHA:100079
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Mucopolysaccharidosis Type 2
Cardiomyopathy, Abnormal aortic morphology, Arrhythmia, Peripheral arterial stenosis, Hypertension ORPHA:580
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus OMIM:300514
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral stenosis, Pulmonary artery stenosis, Coarctat... OMIM:605275
Generalized Arterial Calcification Of Infancy
Aortic dissection, Medial calcification of large arteries, Arterial calcification, Transient isch... ORPHA:51608
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Absent pulmonary artery OMIM:600460
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta, Aortic root aneurysm OMIM:617602
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hypotension, Dilated cardiomyopathy ORPHA:20
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Aortic rupture, Patent ductus arteriosus, Mitral regurgitation OMIM:614557
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Late-Onset Isolated Acth Deficiency
Hypotension, Orthostatic hypotension ORPHA:199299
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Interrupted aortic arch, Coarctation of aorta, Patent ductus arteriosus ORPHA:17
Holoprosencephaly
Tetralogy of Fallot, Arrhythmia, Abnormal aortic morphology ORPHA:2162
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation ... ORPHA:90348
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:618454
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Marfan Syndrome
Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Conge... OMIM:154700
Alexander Disease
Hypertension, Hypotension, Sudden cardiac death ORPHA:58
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Coarctation of ao... ORPHA:42775
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Arrhythmia, Coarctation of ... ORPHA:648
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... OMIM:300989
Fanconi Anemia
Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic mor... ORPHA:84
Distal Deletion 15Q
Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Maternal Phenylketonuria
Tetralogy of Fallot, Coarctation of aorta, Double outlet right ventricle ORPHA:2209
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta ORPHA:1692
17Q11 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Dilatation of the cerebral artery, Abnormal internal carotid artery ... ORPHA:97685
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... ORPHA:466650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Coarctation of aorta, Truncus arteriosus ORPHA:508498
Hardikar Syndrome
Portal hypertension, Pulmonary artery stenosis, Coarctation of aorta, Hematemesis, Partial anomal... OMIM:301068
Myhre Syndrome
Aortic valve stenosis, Coarctation of aorta, Hypertension, Patent ductus arteriosus OMIM:139210
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Prolactinoma
Hypotension ORPHA:2965
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Pulmonary artery atresia, Coarctation of aorta, Double outlet right ventri... OMIM:618164
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... ORPHA:99826
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor... ORPHA:509
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventricular arr... ORPHA:91347
Opitz Gbbb Syndrome
Persistent left superior vena cava, Coarctation of aorta, Aortic root aneurysm, Patent ductus art... ORPHA:2745
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tortuosity, Dila... OMIM:619472
Igg4-Related Kidney Disease
Arteritis, Abnormal aortic morphology, Pericarditis ORPHA:449395
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1507
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:168558
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Coarctation of aorta, Congestive heart failure OMIM:105650
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:289548
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Mosaic Trisomy 16
Single coronary artery origin, Coarctation of aorta, Patent ductus arteriosus ORPHA:1708
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries OMIM:617557
Turner Syndrome Due To Structural X Chromosome Anomalies
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99413
Turner Syndrome
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:881
Mosaic Monosomy X
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99228
Monosomy X
Arterial dissection, Aortic dissection, Aortic arch aneurysm, Gastrointestinal angiodysplasia, Co... ORPHA:99226
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Mitral regurgitation, Coarctation of aorta, Pulmonary arterial hypertension... ORPHA:363611
Acute Liver Failure
Shock, Hypotension, Gastrointestinal hemorrhage, Intracranial hemorrhage ORPHA:90062
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral regurgitation, Coarctation of a... OMIM:220111
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Orofaciodigital Syndrome Vi
Coarctation of aorta OMIM:277170
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Coarctation of aorta ORPHA:1772
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Aortic aneury... ORPHA:666
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Vascular ring, Cardiac conduction abnormality, Coarctation of aorta, Paten... ORPHA:353281
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Coarctation of aorta, Ventricular fibrillation, Hypertension, Patent... OMIM:270400
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2308
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Truncus arteriosus, Coarctation of aorta, Transposition of the great arteri... OMIM:612474
Addison Disease
Hypotension, Orthostatic hypotension ORPHA:85138
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Stroke, Coarcta... OMIM:118450
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Robinow Syndrome
Coarctation of aorta, Pulmonic stenosis ORPHA:97360
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Truncus arteriosus, Coarctation of aorta, Hypoplastic aortic arch, P... ORPHA:508488
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus OMIM:274000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Coarctation of aorta, Hypertension OMIM:210710
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ductus arteriosus, Pulmonic stenosis OMIM:163950
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Vascular ring, Cardiac conduction abnormality, Abnormal subclavian artery ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Vascular ring, Cardiac conduction abnormality, Abnormal subclavian artery ... ORPHA:353277
Rubinstein-Taybi Syndrome 1
Aortic isthmus hypoplasia, Persistent left superior vena cava, Coarctation of aorta, Patent ductu... OMIM:180849
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Femoral-Facial Syndrome
Coarctation of aorta, Patent ductus arteriosus, Pulmonic stenosis, Truncus arteriosus OMIM:134780
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypotension, Hypovolemia ORPHA:90794
Meckel Syndrome, Type 1
Coarctation of aorta, Vascular dilatation, Patent ductus arteriosus OMIM:249000
Diamond-Blackfan Anemia
Coarctation of aorta, Radial artery aplasia ORPHA:124
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Coarctation of aorta, Patent ductus arteriosus OMIM:619480
Plague
Hypotension, Tachycardia, Arrhythmia, Hematemesis ORPHA:707
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Coarctation of aorta, Patent ductus arteriosus OMIM:617088
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Floating-Harbor Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta ORPHA:2044
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Kabuki Syndrome 1
Coarctation of aorta OMIM:147920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Tetralogy of Fallot, Abnormality of the pulmonary artery, Pulmona... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tetralogy of Fallot, Abnormality of the pulmonary artery, Pulmonary artery... ORPHA:261537
Pallister-Hall Syndrome
Coarctation of aorta, Patent ductus arteriosus ORPHA:672
Mowat-Wilson Syndrome
Aortic valve stenosis, Tetralogy of Fallot, Pulmonary artery sling, Coarctation of aorta, Patent ... ORPHA:2152
Pallister-Killian Syndrome
Aortic valve stenosis, Coarctation of aorta, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:601803
Craniofacial Microsomia 1
Tetralogy of Fallot, Coarctation of aorta, Right aortic arch, Patent ductus arteriosus 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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of Acta2 in cardiac fibroblasts does not prevent the myofibroblast differentiation or affect the cardiac repair after myocardial infarction. Journal of molecular and cellular cardiology (August 2022) Acta2tm1c(EUCOMM)Wtsi Acta2tm1a(EUCOMM)Wtsi PMC10478266

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter