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

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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

Gross Morphology Embryo E14.5-E15.5

Images

12 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
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenital Myopathy 8
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Congestiv... OMIM:618654
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... OMIM:604765
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Combined Oxidative Phosphorylation Deficiency 8
Reduced left ventricular ejection fraction, Neonatal death, Congestive heart failure, Increased v... OMIM:614096
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Danon Disease
Lower limb amyotrophy, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely... OMIM:300257
Fixed Subaortic Stenosis
Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defect, Left ventricula... ORPHA:3092
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hypertrophy... OMIM:115197
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria... ORPHA:860
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block ORPHA:85447
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Angina pectoris, Patent ... ORPHA:2041
Sick Sinus Syndrome 2
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Uruguay Faciocardiomusculoskeletal Syndrome
Camptodactyly of toe, Camptodactyly, Mitral regurgitation, Left atrial enlargement, Left ventricu... OMIM:300280
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Carnitine Deficiency, Systemic Primary
Mitral regurgitation, Myopathy, Cardiomyopathy, Hepatomegaly, Congestive heart failure, Hypertrop... OMIM:212140
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... ORPHA:615
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Long Qt Syndrome 15
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... OMIM:616249
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Left atri... ORPHA:57777
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Proximal muscle weakness in lower limbs, Reduced left ventricular ejection fraction... ORPHA:268
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... ORPHA:1329
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure, Cardiomegaly, Limb muscle weakness OMIM:266500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Atrial septal defect, Right ventricular failure, Abnormal atrioventricular... ORPHA:439
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... OMIM:619167
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hep... ORPHA:555874
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Patent foramen ovale, P... OMIM:618652
Arterial Calcification, Generalized, Of Infancy, 2
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic ... OMIM:614473
Neuraminidase Deficiency
Cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256550
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly OMIM:269920
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Tetralogy of Fallot, Ventricular septal... OMIM:601005
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Reduced left ventricular ejection fraction, Hepatomegaly, Sudden... OMIM:201475
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral regurgitation, Tricuspid regurgitation, Aortic valve stenosis, Congestive heart failure, A... ORPHA:324410
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Tricuspid regurgitation, Ventricular hypertrophy, Hypertrophic c... OMIM:619051
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:617713
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Patent duc... OMIM:239850
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Mulibrey Nanism
Hepatomegaly, Congestive heart failure, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Hemochromatosis, Type 1
Arrhythmia, Cardiomyopathy, Hepatomegaly, Telangiectasia, Congestive heart failure, Cardiomegaly,... OMIM:235200
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, ST segment elevation, Prolonged QRS complex, Enlarged kidney, Increased myocardial ... OMIM:261740
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... ORPHA:1677
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction, Hepatomeg... ORPHA:308552
Glycogen Storage Disease Ii
Macroglossia, Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Sinu... OMIM:232300
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Aorta Coarctation
Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Hypertension, Perim... ORPHA:1457
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressure, Hepatomegaly... ORPHA:465508
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation, Patent ductus arteriosus ORPHA:229
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly, Limb muscle weakness OMIM:619259
Craniofaciofrontodigital Syndrome
Macroglossia, Pulmonary arterial hypertension, Mitral regurgitation, Atrial septal defect, Ventri... ORPHA:363705
Absence Of The Pulmonary Artery
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... ORPHA:980
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Cardiomegaly, Hepatomegaly OMIM:255120
Lethal Congenital Contracture Syndrome 10
Macroglossia, Torticollis, Ventricular septal defect, Overriding aorta, Increased variability in ... OMIM:617022
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Cardiomegaly ORPHA:99931
Sandhoff Disease
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Orthostatic hypotension,... OMIM:268800
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Fucosidosis
Decreased muscle mass, Cardiomegaly, Hepatomegaly ORPHA:349
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardia... OMIM:614921
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Camptodactyly of toe, Cardiomyopathy, Impaired myocardial contractility, Cardi... ORPHA:158687
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Pulmonary arterial hypertension OMIM:613320
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Mitral regurgitation, Atrial septal defect, Ventricular septal def... OMIM:620066
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Camptodactyly, Pulmonary arterial hypertension, Pulm... OMIM:602782
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Heart Block, Congenital
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Myocardial fibrosis, Absent atriove... OMIM:234700
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly OMIM:208000
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Neonatal death, Arthrogryposis multiplex congenita, Cardiomegal... OMIM:608013
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Enlarged kidney, Arrhythmia, Knee flexion contracture, Hepato... OMIM:608836
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musc... ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency
Macroglossia, Vasculitis, Heart murmur, Left ventricular hypertrophy, Lower limb muscle weakness,... ORPHA:365
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... OMIM:306955
Mogs-Cdg
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegaly ORPHA:79330
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Patent ductus arteriosus, Hypertrophic cardiomyopathy ORPHA:1517
Truncus Arteriosus
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Tachycar... ORPHA:3384
Fucosidosis
Macroglossia, Hepatomegaly, Flexion contracture, Cardiomegaly, Splenomegaly OMIM:230000
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... OMIM:245600
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Arrhythmia, Cardiomyopathy, Hepatomegaly, Abnormal myocardium morphology, Renal tubu... ORPHA:228308
Sickle Cell Disease
Cardiomegaly, Hypertension, Hepatomegaly, Splenomegaly OMIM:603903
Developmental And Epileptic Encephalopathy 95
Macroglossia, Multiple joint contractures, Hepatomegaly, Arthrogryposis multiplex congenita, Card... OMIM:618143
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... OMIM:300967
Histiocytoid Cardiomyopathy
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular septal defect, Atrial fibril... ORPHA:137675
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Subarachnoid hemorrhage, Ischemic stroke, Hypertension, Aortic regurgitation, Bicuspid aortic val... ORPHA:91387
Mucolipidosis Ii Alpha/Beta
Macroglossia, Diastasis recti, Camptodactyly, Heart murmur, Mitral regurgitation, Enlarged kidney... OMIM:252500
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... OMIM:612098
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Cardiomegaly, Lip telangiectasia, Telangiectasia of the skin ORPHA:79280
Congenital Tracheomalacia
Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot, Ventricular septal de... ORPHA:95430
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Pancr... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Ventricular septal defect, Hepatomegaly, Patent ductus arteriosus, Cardiomegaly ORPHA:96191
Mucopolysaccharidosis Type 3
Macroglossia, Reduced left ventricular ejection fraction, Abnormal mitral valve morphology, Hepat... ORPHA:581
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Cardiomegaly, Lower limb hypertonia, Congenital contracture,... ORPHA:97297
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, ... ORPHA:99125
Abetalipoproteinemia
Myopathy, Distal lower limb muscle weakness, Hepatomegaly, Congestive heart failure, Cardiomegaly ORPHA:14
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Hepatocellular necrosis, Cardiomegaly OMIM:618278
Ogden Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Torticollis, Ventricular tachycar... OMIM:300855
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Raynaud phenomenon, Multiple joint contractures, Hypertrophic cardiomyopathy,... ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Macroglossia, Camptodactyly of finger, Flexion contracture of toe, Arrhythmia, Skeletal muscle at... OMIM:256040
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Mitral regurgitation, Myocardial steatosis, Tendon xanthomatosis, Hyp... ORPHA:391665
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Hepatomegaly, Leiomyosarcoma, Congenital diaphrag... ORPHA:116
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve steno... OMIM:182250
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Left ventricular systolic dysfunction, Hypertension, Weak pulse,... ORPHA:51608
Williams Syndrome
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy... ORPHA:904
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Atrial septal defect, Tetralogy of Fa... ORPHA:3472
Liver Disease, Severe Congenital
Systolic heart murmur, Left atrial enlargement, Ventricular septal defect, Atrial septal defect, ... OMIM:619991
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... ORPHA:99103
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794

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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