Gene Summary

Name:
actin, alpha, cardiac muscle 1
Synonyms:
Actc-1,  alphac-actin

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
preweaning lethality, complete penetrance Actc1em1(IMPC)Mbp HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 Actc1 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 Actc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103

The table below shows human diseases predicted to be associated to Actc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... OMIM:615373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Cardiomegaly, EMG: myop... OMIM:300257
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Hepatomegaly, Pericardial effusion, Atrioventricu... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Re... OMIM:212140
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Abnormal QRS complex, Ventricular septal defect, Abnormality of blood circulation, ... ORPHA:860
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal EKG, Aortic valve stenosis, Ab... ORPHA:2041
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Congestive heart f... ORPHA:615
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Bradycardia, Cardiomyopathy, Con... OMIM:261740
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Refsum Disease, Classic
Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:266500
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... OMIM:601005
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Right ventricular hypertrophy... ORPHA:268
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiom... ORPHA:555874
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Patent ductus arteriosus, Atria... OMIM:618652
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Neonatal death, Left ventricular syst... OMIM:619167
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Abnormal... ORPHA:439
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly OMIM:269920
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal atri... ORPHA:324410
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, Ca... OMIM:201475
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Arrhythmia ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... OMIM:619051
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Hemochromatosis, Type 1
Telangiectasia, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly, Congestive heart failur... OMIM:235200
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure, Myocardial fibrosis OMIM:253250
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Hepatomegaly, Atr... ORPHA:1677
Aorta Coarctation
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Cardiomegaly, Perimembranou... ORPHA:1457
Glycogen Storage Disease Ii
Firm muscles, Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Wolff-Parkinson-White syndr... OMIM:232300
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Low-output congestive heart failure, Fac... ORPHA:308552
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Arrhythmia OMIM:255120
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Cardiomyopat... ORPHA:465508
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... ORPHA:363705
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly, Patent ductus arteriosus ORPHA:229
Absence Of The Pulmonary Artery
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Abnorm... ORPHA:980
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Congestive heart failure, Limb muscle weakness OMIM:619259
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Increased muscle lipid content, Antenatal intracerebral hem... OMIM:608836
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture OMIM:616897
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Heart murmur ORPHA:99931
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Fucosidosis
Decreased muscle mass, Cardiomegaly, Hepatomegaly ORPHA:349
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Pulmonary arterial hypertension,... OMIM:614921
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Macroglossia, Cardiomegaly, Hepat... OMIM:268800
Lethal Congenital Contracture Syndrome 10
Torticollis, Ventricular septal defect, Cardiomegaly, Overriding aorta OMIM:617022
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Cardiomegaly OMIM:618886
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Flexion co... OMIM:602782
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Neonatal death, Cardiomegaly, Arthrogryposis multiplex congenita, Splenomegaly, Hep... OMIM:608013
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Fucosidosis
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Flexion contracture OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Hypoplasia of the musculature, Thenar muscle atrophy, Mucosal telangiectasiae, Smal... ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Facial hypotonia, Cardiomegaly, EMG: myo... ORPHA:365
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus ORPHA:1517
Sickle Cell Anemia
Hypertension, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Aortic regurgitation, Cardiomegaly, Sple... OMIM:252500
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect ORPHA:79330
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Heart block, Renal tubular epithelial necrosis, Abnor... ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Macroglossia, Cardiomegaly, Arthrogryposis multiplex congenita, Multiple joint cont... OMIM:618143
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Congenital diaphragmatic hernia, Cardiomegaly, Left... OMIM:245600
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypertension, Bicuspid aortic valve, Aortic regurgitation, Cardiomegaly, Patent ductus arteriosus... ORPHA:91387
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventr... ORPHA:137675
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Hepatomegaly, Hepatocellular necrosis OMIM:618278
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Beckwith-Wiedemann Syndrome
Hepatomegaly, Macroglossia, Cardiomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Macroglossia, Cardiomegaly, Patent ductus arteriosus ORPHA:96191
Bohring-Opitz Syndrome
Cardiomegaly, Facial hypotonia, Bradycardia, Abnormal cardiac septum morphology, Bilateral wrist ... ORPHA:97297
Mucopolysaccharidosis Type 3
Hepatomegaly, Reduced ejection fraction, Abnormal mitral valve morphology, Macroglossia, Atrioven... ORPHA:581
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Low-output congestive heart failure, Single ventricle,... ORPHA:99125
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Pulmonary arterial hypert... ORPHA:95430
Abetalipoproteinemia
Hepatomegaly, Myopathy, Cardiomegaly, Congestive heart failure, Distal lower limb muscle weakness ORPHA:14
Homozygous Familial Hypercholesterolemia
Hypertension, Myocardial steatosis, Mitral regurgitation, Heart murmur, Supravalvular aortic sten... ORPHA:391665
Greenberg Dysplasia
Hepatomegaly, Neonatal death, Cardiomegaly, Stillbirth, Hepatosplenomegaly OMIM:215140
Singleton-Merten Syndrome 1
Tendon rupture, Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Muscle fib... OMIM:182250
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Myositis, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Mult... ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Flexion contracture of toe, Macroglossia, Cardiomegaly, Sp... OMIM:256040
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Rhabdomyosarcoma, Macroglossia, Congenital diaphragmat... ORPHA:116
Generalized Arterial Calcification Of Infancy
Hypertension, Myocardial calcification, Pericardial effusion, Ventricular hypertrophy, Pulmonary ... ORPHA:51608
Williams Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Cerebral ischemia, Overriding aorta, Hypertrophi... ORPHA:904
Yunis-Varon Syndrome
Hypertension, Ventricular septal defect, Renovascular hypertension, Pulmonary arterial hypertensi... ORPHA:3472
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103

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 Actc1

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 Actc1.

No publications found that use IMPC mice or data for Actc1.

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MGI Allele Allele Type Produced
Actc1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Actc1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Actc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Actc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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