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.

MicroCT E9.5

Embryo reconstruction

8 Images

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.

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
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... ORPHA:85451
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... OMIM:115197
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis, Hypertrop... OMIM:212140
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly ORPHA:85447
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... OMIM:616501
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... OMIM:261740
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... ORPHA:57777
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Neuraminidase Deficiency
Hepatomegaly, Splenomegaly, Skeletal muscle atrophy, Cardiomyopathy, Cardiomegaly OMIM:256550
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrop... OMIM:619167
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly OMIM:619064
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Perica... OMIM:239850
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Sudden cardiac death, Exercise-induced rhabdomyolysis, Hyp... OMIM:201475
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy ORPHA:42
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure OMIM:253250
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive ... OMIM:235200
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... ORPHA:1457
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... ORPHA:1677
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Macroglossia, Left ventricular outflow tract obstruction, Left ventricular hypertro... ORPHA:308552
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Sp... OMIM:232300
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly OMIM:255120
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Splenomegaly, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressure, Portal ... ORPHA:465508
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:619259
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mac... ORPHA:363705
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly OMIM:105210
Familial Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic regurgitation ORPHA:229
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... ORPHA:980
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Cardiomegaly ORPHA:99931
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly OMIM:616897
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Tachycardia, Ventricular septal defect, Rhabdomyolysis, Pulmo... OMIM:614921
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta OMIM:617022
Sandhoff Disease
Hepatomegaly, Macroglossia, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy,... OMIM:268800
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardiomyopathy, Cardi... ORPHA:158687
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosi... OMIM:602782
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... OMIM:234700
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure OMIM:208000
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis multiplex congenit... OMIM:608013
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Arrhythmia, Enlarged kidney, Increased muscle lipid content, Dilated cardiomyopathy... OMIM:608836
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Mucosal telangiectasiae, Small hypothenar eminence, Thenar muscle ... ORPHA:2463
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly ORPHA:1517
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Macroglossia, Flexion contracture,... ORPHA:365
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Truncus Arteriosus
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... ORPHA:3384
Fucosidosis
Hepatomegaly, Macroglossia, Flexion contracture, Splenomegaly, Cardiomegaly OMIM:230000
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Sickle Cell Anemia
Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block, Renal tubular epithelial n... ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... OMIM:245600
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Card... OMIM:618143
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... ORPHA:137675
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Mitral regurgitation, Camptodactyly, E... OMIM:252500
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, ... ORPHA:91387
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa ORPHA:79280
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopa... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly ORPHA:96191
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Flexion contracture, Macr... ORPHA:581
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Lower limb hypertonia, Bilateral wrist flexion contracture, C... ORPHA:97297
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Distal lower limb muscle weakness, Myopathy, Congestive heart failure ORPHA:14
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatomegaly, Hepatosplenomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Abnormal tendon morphology, Sudden cardiac d... ORPHA:391665
Ogden Syndrome
Torticollis, Torsade de pointes, Bicuspid aortic valve, Premature atrial contractions, Secundum a... OMIM:300855
Aicardi-Goutières Syndrome
Multiple joint contractures, Raynaud phenomenon, Hepatosplenomegaly, Myositis, Hypertrophic cardi... ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Hepatomegaly, Flexion contracture, Macroglossia, Splenomegaly, Cam... OMIM:256040
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Congenital diaphragmatic hernia, Macroglossia, Splenomegaly, Rhabd... ORPHA:116
Singleton-Merten Syndrome 1
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Mitral v... OMIM:182250
Generalized Arterial Calcification Of Infancy
Weak pulse, Myocardial calcification, Retinal hemorrhage, Left ventricular systolic dysfunction, ... ORPHA:51608
Williams Syndrome
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... ORPHA:904
Liver Disease, Severe Congenital
Abnormal left ventricular function, Atrial septal defect, Hepatomegaly, Splenomegaly, Systolic he... OMIM:619991
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Renovascular hypertension, Ventricular septal defect, ... ORPHA:3472
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... 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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