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Gene: Acta2 MGI:87909

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Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

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

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Multisystemic Smooth Muscle Dysfunction Syndrome
Hyperperistalsis, Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Hype... OMIM:613834
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Ischemic stroke, Aortic regurgitat... ORPHA:91387
Moyamoya Disease
Telangiectasia ORPHA:2573

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
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-ventricular tunnel, Heart ... ORPHA:3400
Aneurysm, Intracranial Berry, 12
Arterial fibromuscular dysplasia, Internal carotid artery dissection, Subarachnoid hemorrhage, Ce... OMIM:618734
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Patent ductus arteriosus, Posterior cerebral a... OMIM:132900
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Patent ductu... ORPHA:229
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia, Carotid artery occlusion OMIM:252350
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Aortic valve stenosis, Coarctation of aorta OMIM:615779
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology, Arrhythmia, Hypertension ORPHA:3222
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... OMIM:613485
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Congestive heart fa... OMIM:613426
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial tortuosity, Arterial calcification, Abnormal cardiovascular system physiology, Arterial ... ORPHA:289601
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Pulmonary artery atres... OMIM:618780
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Left ventricular outflow tract obstruction, Aortic val... OMIM:614980
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Congestive heart failure, Myocardial infarction, Hypertension OMIM:614473
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Pulmonic stenosis, Doubl... OMIM:613854
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery ... OMIM:185500
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertro... OMIM:178600
Multisystemic Smooth Muscle Dysfunction Syndrome
Hyperperistalsis, Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Hype... OMIM:613834
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart mu... ORPHA:402075
Partial Atrioventricular Septal Defect
Palpitations, Anomalous pulmonary venous return, Angina pectoris, Atrial flutter, Mitral regurgit... ORPHA:1330
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Ischemic stroke, Aortic regurgitat... ORPHA:91387
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Tricuspid Atresia
Pulmonary artery atresia, Transposition of the great arteries, Persistent left superior vena cava... ORPHA:1209
Analbuminemia
Hypotension, Patent ductus arteriosus OMIM:616000
Aorta Coarctation
Patent ductus arteriosus, Coarctation of the descending aortic arch, Hypoplastic aortic arch, Cor... ORPHA:1457
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Transposition of the great arteries, Coarctation of... OMIM:612474
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Varicose veins OMIM:263400
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Abnormal pulse pressure, Angina pectoris, Abnormal left ventricular fu... ORPHA:3093
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta ORPHA:101028
Marfanoid Hypermobility Syndrome
Mitral regurgitation, Aortic aneurysm, Aortic regurgitation OMIM:154750
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm, Aortic regurgitation ORPHA:98892
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Transposition of the great arteries, Coarctati... OMIM:217095
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Premature coronary artery atherosclerosis, Coronary artery aneurysm, ... ORPHA:391665
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Mitral regurgitation, Cardiomyopathy OMIM:226100
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm ORPHA:1455
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Pulmonic stenosis, Double outlet right ventricle, Patent ductus arteriosus, Coarctation of aorta OMIM:618164
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hematochezia, Hepatic arteriovenous malformation, Mitral reg... OMIM:175050
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis ORPHA:2248
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonic stenosis, Heart murmur, Double outlet right ventricle, Tachycardia, ... ORPHA:3426
Mass Syndrome
Aortic aneurysm OMIM:604308
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1166
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Coarctation of aorta OMIM:614300
Perry Syndrome
Hypotension ORPHA:178509
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Adult Acute Respiratory Distress Syndrome
Hypotension, Vasculitis, Shock ORPHA:70578
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Anomalous pulmonary venous re... ORPHA:185
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic tortuosity, Aortic regurgitation, Generalized arterial tortuosity, Hypert... OMIM:208050
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm OMIM:130090
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Holt-Oram Syndrome
Anomalous pulmonary venous return, Paroxysmal atrial fibrillation, Abnormal aortic morphology, Pa... ORPHA:392
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Autosomal Dominant Cutis Laxa
Pulmonic stenosis, Aortic aneurysm ORPHA:90348
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Buschke-Ollendorff Syndrome
Abnormal aortic morphology, Hypertension ORPHA:1306
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Myocardial infarction, Tachyc... ORPHA:449285
Nipah Virus Disease
Hypotension ORPHA:99825
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Aortic root aneurysm, Mitral regurgitation, Abdominal aortic ane... OMIM:617168
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal superior vena cava morphology, Truncus arteriosus, ... ORPHA:3384
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation, Melena, Facial tel... ORPHA:100080
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Aortic aneurysm, Vascular dilatation, Telangiectasia of the s... ORPHA:3342
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta OMIM:616559
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Coarctation of aorta OMIM:614857
Dysbetalipoproteinemia
Accelerated atherosclerosis, Premature coronary artery atherosclerosis, Angina pectoris, Aortic a... ORPHA:412
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100082
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Pulmonary artery stenosis, Tetralogy of Fal... ORPHA:251071
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556037
Dengue Fever
Hypotension, Cerebral hemorrhage, Epistaxis, Gastrointestinal hemorrhage ORPHA:99828
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Acquired Von Willebrand Syndrome
Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hyp... ORPHA:99147
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tricuspid regurgitation, Coarctation... ORPHA:1120
Mental Retardation, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Diabetic Embryopathy
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology, Transpositi... ORPHA:1926
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Aortic atherosclerotic lesion, Coronary artery atherosclerosis, Hyperten... ORPHA:363618
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556030
Moyamoya Disease
Telangiectasia ORPHA:2573
Right Atrial Isomerism
Aortopulmonary collateral arteries, Pulmonic stenosis, Pulmonary artery atresia, Tetralogy of Fal... OMIM:208530
Giant Cell Arteritis
Arrhythmia, Pericarditis, Epistaxis, Sudden cardiac death, Double outlet right ventricle with sub... ORPHA:397
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Pulmonic stenosis, Patent ductus arteriosus, Coarctation of aorta ORPHA:284169
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Mitral regurgitation, Dilatation of the cerebral artery, Aortic dissec... OMIM:300989
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolonged QRS ... ORPHA:90068
Transaldolase Deficiency
Patent ductus arteriosus, Telangiectasia, Coarctation of aorta OMIM:606003
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation,... ORPHA:97287
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension OMIM:264350
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Double outlet right ventricle, Hypertension, Coarctation of aorta ORPHA:371428
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Phace Association
Arterial stenosis, Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta, Anomalous... OMIM:606519
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:188
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Meacham Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Aortic valve stenosis, Coarctation o... ORPHA:3097
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta OMIM:600987
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Palpitations, Right ventricular failure, Hematemesis, Hypotension, Tricuspid r... ORPHA:100075
Mastocytosis
Hypotension, Arrhythmia, Gastrointestinal hemorrhage, Telangiectasia of the skin ORPHA:98292
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Truncus arteriosus, Patent ductus arteriosus, Pulm... OMIM:601186
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Vascular dilatation, Congestive heart failure, Abnormal venous morphology, A... ORPHA:1900
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, Conotrunc... ORPHA:96147
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta ORPHA:2876
Alport Syndrome
Abnormal aortic morphology, Aortic aneurysm, Hypertension ORPHA:63
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Hardikar Syndrome
Portal hypertension, Patent ductus arteriosus, Pulmonary artery stenosis, Coarctation of aorta OMIM:612726
Scrub Typhus
Hypotension, Myocarditis ORPHA:83317
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Coarctation of aorta OMIM:618929
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Arterial dissection, Vascular dilatation, Cardiac ... ORPHA:60030
Aa Amyloidosis
Hypotension ORPHA:85445
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Pagod Syndrome
Arrhythmia, Abnormal aortic morphology, Pulmonary artery hypoplasia, Sudden cardiac death, Abnorm... ORPHA:991
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Aortic root aneurysm, Aortic dissection, Ascending tubula... OMIM:614816
Yellow Fever
Hypotension, Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99829
Meningococcal Meningitis
Hypotension, Shock ORPHA:33475
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Congestive heart failure, Myocarditis ORPHA:31824
Noonan Syndrome 2
Abnormal coronary artery origin, Patent ductus arteriosus, Pulmonic stenosis, Mitral stenosis, Co... OMIM:605275
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Cardiomyopathy, Ventricular tachycardia ORPHA:159
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100077
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Noonan Syndrome 10
Patent ductus arteriosus, Pulmonic stenosis, Mitral stenosis, Coarctation of aorta, Mitral regurg... OMIM:616564
Necrotizing Enterocolitis
Hypotension, Bradycardia, Shock ORPHA:391673
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Relapsing Fever
Hypotension, Tachycardia, Epistaxis ORPHA:91547
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Aortic valve stenosis, Coarctation of aorta,... ORPHA:2396
Acrocardiofacial Syndrome
Tetralogy of Fallot, Truncus arteriosus, Mitral stenosis, Coarctation of aorta ORPHA:2008
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Myocardial infarction, Myocarditis ORPHA:3452
Serotonin Syndrome
Hypotension, Tachycardia, Hypertension ORPHA:43116
Legionnaires Disease
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:549
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Pulmonary insufficiency, Generalized arterial tortuosity, Pulmonary artery a... OMIM:614437
Congenital Enterovirus Infection
Hypotension, Cardiomyopathy, Myocarditis ORPHA:292
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Right ventricular failure, Patent ductus art... ORPHA:99125
Aggressive Systemic Mastocytosis
Hypotension, Portal hypertension, Gastrointestinal hemorrhage ORPHA:98850
Congenital Hypothyroidism
Hypotension, Arrhythmia, Hypertension ORPHA:442
Kleefstra Syndrome
Tetralogy of Fallot, Arrhythmia, Pulmonary artery stenosis, Coarctation of aorta ORPHA:261494
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hematemesis, Hypotension,... ORPHA:100076
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycardia, Prolonged ... ORPHA:31826
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Vascular dilatation OMIM:618343
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock ORPHA:36238
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Coarctation of ... OMIM:600268
Marfan Syndrome
Aortic tortuosity, Dilatation of an abdominal artery, Arterial dissection, Congestive heart failu... ORPHA:558
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Aortic regurgitation, Patent ductus arteriosus, Dilatation of the sinus of V... ORPHA:284984
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Loeys-Dietz Syndrome 3
Arterial tortuosity, Aortic tortuosity, Aortic aneurysm, Subarachnoid hemorrhage, Mitral regurgit... OMIM:613795
Kabuki Syndrome 2
Pulmonic stenosis, Coarctation of aorta OMIM:300867
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta OMIM:614114
Mucopolysaccharidosis Type 2, Severe Form
Arrhythmia, Abnormal aortic morphology, Hypertension, Heart murmur, Peripheral arterial stenosis,... ORPHA:217085
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Tricuspid regurgitation, Pulmonic... OMIM:617506
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Coarctation of aorta OMIM:617159
Mucopolysaccharidosis Type 2, Attenuated Form
Arrhythmia, Abnormal aortic morphology, Hypertension, Heart murmur, Peripheral arterial stenosis,... ORPHA:217093
Fryns Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:2059
Fg Syndrome Type 1
Pulmonary arterial hypertension, Coarctation of aorta ORPHA:93932
Poliomyelitis
Hypotension, Hypertension, Hypovolemic shock ORPHA:2912
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Mosaic Variegated Aneuploidy Syndrome
Abnormal aortic morphology, Aortic regurgitation, Coarctation of aorta ORPHA:1052
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta OMIM:600460
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Mucopolysaccharidosis Type 2
Arrhythmia, Abnormal aortic morphology, Hypertension, Peripheral arterial stenosis, Cardiomyopathy ORPHA:580
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Carotid artery dilatation, Arterial tortuosity, Generalized a... OMIM:610168
Gitelman Syndrome
Hypotension, Palpitations, Prolonged QT interval, Ventricular tachycardia OMIM:263800
Bacterial Toxic-Shock Syndrome
Hypotension, Tachycardia, Shock, Myocarditis, Capillary leak ORPHA:36234
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Interrupted aortic arch, Pulmonary insufficiency, Patent duc... OMIM:265380
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Tachycardia, Brad... ORPHA:94093
Cholera
Hypotension, Tachycardia, Hypovolemic shock ORPHA:173
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Internal hemorrhage ORPHA:244242
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Coarctation of aorta OMIM:300514
Lysosomal Acid Lipase Deficiency
Hypovolemia, Hypotension, Coronary artery atherosclerosis, Precocious atherosclerosis, Pulmonary ... ORPHA:275761
Holoprosencephaly
Tetralogy of Fallot, Arrhythmia, Abnormal aortic morphology ORPHA:2162
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Familial Glucocorticoid Deficiency
Hypotension, Hypertrophic cardiomyopathy ORPHA:361
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta OMIM:617602
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Coarctation of aorta OMIM:618454
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Generalized Arterial Calcification Of Infancy
Abnormal retinal artery morphology, Calcification of the aorta, Medial calcification of medium-si... ORPHA:51608
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Syncope ORPHA:98849
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Sepsis In Premature Infants
Hypotension, Tachycardia, Bradycardia ORPHA:90051
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Aortic root aneurysm, Ao... OMIM:154700
Acute Adrenal Insufficiency
Hypotension, Myocardial infarction, Orthostatic hypotension, Hypovolemia ORPHA:95409
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Aortic root aneurysm, Ab... ORPHA:42775
Neuroendocrine Neoplasm Of Appendix
Hypotension, Palpitations, Heart murmur, Tricuspid stenosis ORPHA:100079
Fanconi Anemia
Abnormal carotid artery morphology, Abnormal aortic morphology, Patent ductus arteriosus, Arterio... ORPHA:84
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Aortic rupture OMIM:614557
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta ORPHA:1692
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Interrupted aortic arch, Coarctation of aorta ORPHA:17
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Cardiac arrest ORPHA:20
Late-Onset Isolated Acth Deficiency
Hypotension, Orthostatic hypotension ORPHA:199299
Maternal Phenylketonuria
Tetralogy of Fallot, Double outlet right ventricle, Coarctation of aorta ORPHA:2209
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
17Q11 Microdeletion Syndrome
Renovascular hypertension, Cerebral artery stenosis, Hypertension, Telangiectasia of the skin, Pu... ORPHA:97685
Myhre Syndrome
Aortic valve stenosis, Patent ductus arteriosus, Hypertension, Coarctation of aorta OMIM:139210
Hepatocellular Carcinoma
Internal hemorrhage, Hypotension, Budd-Chiari syndrome, Portal hypertension, Venous insufficiency ORPHA:88673
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Arterial stenosis, Internal hemorrhage, Renovascular hypertension, Vascula... ORPHA:286
Alexander Disease
Sudden cardiac death, Hypotension, Hypertension ORPHA:58
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Opitz Gbbb Syndrome, Type Ii
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta OMIM:145410
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Truncus arteriosus, Aortic regurgitation, Coarctation of aorta ORPHA:508498
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Congestive heart failure, Coarctation of aorta OMIM:105650
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Prolactinoma
Hypotension ORPHA:2965
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Igg4-Related Kidney Disease
Abnormal aortic morphology, Arteritis, Pericarditis ORPHA:449395
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Exercise-Induced Malignant Hyperthermia
Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Abnormal T-wave, ... ORPHA:466650
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, First de... ORPHA:509
Ehlers-Danlos Syndrome, Vascular Type
Hemothorax, Carotid cavernous fistula, Diffuse alveolar hemorrhage, Dilatation of the cerebral ar... OMIM:130050
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Patent ductus arteriosus, Coarctation of aorta, Pulmonary arterial hyperten... ORPHA:363611
Hemifacial Microsomia
Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta OMIM:164210
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Cerebral hemorrhage, Aortic root aneurysm, Aortic diss... ORPHA:666
Mosaic Trisomy 16
Single coronary artery origin, Patent ductus arteriosus, Coarctation of aorta ORPHA:1708
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2308
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval, Coarctation of aorta ORPHA:1772
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:168558
Turner Syndrome Due To Structural X Chromosome Anomalies
Arterial dissection, Hypertension, Myocardial infarction, Prolonged QT interval, Coarctation of a... ORPHA:99413
Turner Syndrome
Arterial dissection, Hypertension, Myocardial infarction, Prolonged QT interval, Coarctation of a... ORPHA:881
Mosaic Monosomy X
Arterial dissection, Hypertension, Myocardial infarction, Prolonged QT interval, Coarctation of a... ORPHA:99228
Monosomy X
Arterial dissection, Hypertension, Myocardial infarction, Prolonged QT interval, Coarctation of a... ORPHA:99226
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:289548
Opitz Gbbb Syndrome
Persistent left superior vena cava, Coarctation of aorta, Patent ductus arteriosus, Aortic root a... ORPHA:2745
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Coarctation of aorta OMIM:617088
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Coarctation of aorta OMIM:274000
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1507
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cardiac conduction abnormality, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosi... ORPHA:353281
Addison Disease
Hypotension, Orthostatic hypotension ORPHA:85138
Robinow Syndrome
Pulmonic stenosis, Coarctation of aorta ORPHA:97360
Noonan Syndrome 1
Pulmonic stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Coarctation of aorta OMIM:163950
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Alagille Syndrome 1
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Renal artery stenosis, Coarctation of ... OMIM:118450
Meckel Syndrome, Type 1
Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta OMIM:249000
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Acute Liver Failure
Intracranial hemorrhage, Hypotension, Gastrointestinal hemorrhage, Shock ORPHA:90062
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cardiac conduction abnormality, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cardiac conduction abnormality, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosi... ORPHA:353277
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:270400
Blackfan-Diamond Anemia
Radial artery aplasia, Coarctation of aorta ORPHA:124
Plague
Hypotension, Arrhythmia, Tachycardia, Hematemesis ORPHA:707
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Hypovolemia, Shock ORPHA:90794
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Coarctation of aorta OMIM:210710
Floating-Harbor Syndrome
Persistent left superior vena cava, Tetralogy of Fallot, Coarctation of aorta ORPHA:2044
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Gastrointestinal hemorrhage, Patent ductus arteriosus, Hypoplastic aortic arc... ORPHA:508488
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Coarc... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Pulmonic stenosis, Aortic valve stenosis, Coarctation of aorta, Abnormali... ORPHA:261537
Mowat-Wilson Syndrome
Pulmonary artery sling, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Coarc... ORPHA:2152
Pallister-Hall Syndrome
Patent ductus arteriosus, Coarctation of aorta ORPHA:672
Pallister-Killian Syndrome
Aortic valve stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Coarctation of aorta OMIM:601803
Kabuki Syndrome 1
Coarctation of aorta OMIM:147920

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

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