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Gene: Eya3 MGI:109339

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Gene Summary

Name:
EYA transcriptional coactivator and phosphatase 3
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Eya3Gt(W096D02)Wrst HOM Early adult 1.56×10-05
decreased body weight Eya3Gt(W096D02)Wrst HOM Early adult 2.65×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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 Eya3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Eya3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... OMIM:113900
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a... ORPHA:45452
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, First degree atrioventricular block, Sudden cardiac death, Achilles tendon contrac... OMIM:310300
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia ORPHA:871
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Sudden cardiac death, Neck joint contracture, Achilles tendo... OMIM:181350
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia ORPHA:1055
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... OMIM:608758
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... OMIM:609040
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure, Atriovent... ORPHA:60041
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... ORPHA:563
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, Congestive heart... OMIM:310200
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Failure to thrive, Crack... ORPHA:1329
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cognitive impairment, Cardiomyopathy ORPHA:1177
Myopathy, Myofibrillar, 1
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... OMIM:601419
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Weight loss ORPHA:85447
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Pleural effusion, Bra... ORPHA:330001
Gitelman Syndrome
Prolonged QT interval, Respiratory distress, Raynaud phenomenon, Low-to-normal blood pressure, Go... ORPHA:358
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Congenital Myopathy 24
Cardiomyopathy, Reduced vital capacity, First degree atrioventricular block OMIM:617336
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degr... OMIM:115197
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Steinert Myotonic Dystrophy
Short attention span, Respiratory failure requiring assisted ventilation, Atrial fibrillation, Pr... ORPHA:273
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Cardiorespiratory arrest, Premat... OMIM:212138
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Rett Syndrome
Apnea, Intermittent hyperventilation, Cachexia, Abnormal T-wave, Motor deterioration, Prolonged Q... OMIM:312750
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Apnea, Limb joint contracture, Bradycardia OMIM:619814
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Bradycardia, Joint contracture of the 5th finger, Atrioventricular block OMIM:614407
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... OMIM:615745
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Left ventricular... ORPHA:860
Autoimmune Hypoparathyroidism
Prolonged QT interval, Increased bone mineral density, Confusion, Dyspnea, Depression, Abnormal l... ORPHA:36913
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Bundle branch block, Neonatal respiratory distress, Short attention span, First deg... ORPHA:589821
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Tachycardia, Small for gestational age, Episodic tac... ORPHA:26793
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Congestive heart failure... OMIM:261740
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failu... ORPHA:70591
Lyme Disease
Memory impairment, Arthritis, Arrhythmia, Atrioventricular block ORPHA:91546
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Joint stiffness, Supraventricular arrhythmia, Re... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Joint stiffness, Supraventricular arrhythmia, Re... ORPHA:261
Andersen-Tawil Syndrome
Joint laxity, Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular ta... ORPHA:37553
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Timothy Syndrome
Prolonged QT interval, Pneumonia, Ventricular tachycardia, Atrioventricular block, Bradycardia, P... OMIM:601005
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Joint stiffness, Supraventricular arrhythmia, Re... ORPHA:98863
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Joint stiffness, Supraventricular arrhythmia, Ac... ORPHA:98855
Cln3 Disease
Depression, T-wave inversion, Dementia, Bradycardia, Mental deterioration, Memory impairment ORPHA:228346
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Nonproductive cough, Dyspnea, Jaw claudication, Weight... ORPHA:85443
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Atrioventric... ORPHA:371428
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Limited elbow movement, Limited knee flexion/extension, Right bundle branch block, ... ORPHA:268
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Progressive neurologic deterioration, Shortened PR interval, Obes... OMIM:614947
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Cognitive impairment ORPHA:94125
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Respiratory insuff... OMIM:232300
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Joint stiffness, Atrioventri... ORPHA:392
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dyspnea, Syncope, Orthostatic syncope, Rhinitis ORPHA:230
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Respiratory insufficiency, Hypertension, Second degree atrioventricula... OMIM:617021
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Orthopnea, Congestive heart failu... ORPHA:980
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory insufficiency due to musc... ORPHA:365
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Delirium, H... ORPHA:90068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Joint contracture OMIM:615351
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Dementia, Third degree atrioventricular block OMIM:530000
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti... ORPHA:79102
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Progressive neurologic deterioration, Cardiac conduction abnormality... ORPHA:2131
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Flexion contracture, Osteopo... OMIM:613327
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Increased bone mineral density, Dyspnea, Diaphyseal sclerosis, Depression,... ORPHA:94089
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, I... OMIM:259900
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Confusion, Crackles, Tachypnea, ST segment depression, Hypotension, Hypoca... ORPHA:466650
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Prolonged QT interval, Bidirectional ventricular ectopy, Depression, Syncope, Palpi... OMIM:170390
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Confusion, Congestive heart failu... ORPHA:31826
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia ORPHA:93317
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:615474
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Attention deficit hyperactivity disorder, Failure to thrive, Joint hypermo... OMIM:300352
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Progressive neurologic deterioration, Joint stiffness, Flexion contrac... ORPHA:581
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Increased bone mineral density, Confusion, Dyspnea, Obesity, Depression, I... ORPHA:79444
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Confusion, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Failure to... ORPHA:71212
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Failure to thrive, Foot joint contracture ORPHA:444072
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Increased bone mineral density, Confusion, Dyspnea, Obesity, Reduced bone ... ORPHA:79443
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Weight loss, Irritability, Sec... ORPHA:3385
Hamamy Syndrome
Osteopenia, Prolonged QRS complex, Recurrent fractures, Craniosynostosis, Mitral regurgitation OMIM:611174
Meier-Gorlin Syndrome 7
Joint laxity, Craniosynostosis, Sagittal craniosynostosis, Heart block, Second degree atrioventri... OMIM:617063
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Flexion contracture, Stridor, Attention deficit hyperactivity disorder, Ca... OMIM:620029
Woodhouse-Sakati Syndrome
Osteopenia, Abnormal T-wave, Mental deterioration ORPHA:3464
Congenital Heart Defects, Multiple Types, 9
Pulmonic stenosis, Left axis deviation OMIM:620294
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension, Failure to thrive OMIM:263800
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Atrial Septal Defect 1
Second degree atrioventricular block, Aortic valve stenosis OMIM:108800
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Failure to thrive in infancy, Truncal obesity, Pulmonic stenosis, Emotiona... ORPHA:529962
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subc... ORPHA:509
Leopard Syndrome 1
Bundle branch block, Limited elbow movement, Third degree atrioventricular block, Pulmonic stenos... OMIM:151100
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy ORPHA:66634
Immunodeficiency 87 And Autoimmunity
Small for gestational age, Dilated cardiomyopathy, Hypertension, Third degree atrioventricular bl... OMIM:619573
Dpagt1-Cdg
Prolonged QT interval, Flexion contracture, Osteoporosis, Intracranial hemorrhage, Camptodactyly,... ORPHA:86309
Parathyroid Carcinoma
Shortened QT interval, Osteoporosis, Weight loss ORPHA:143
Multiple Endocrine Neoplasia Type 1
Short attention span, Confusion, Hematemesis, Shortened QT interval, Osteolysis, Increased suscep... ORPHA:652
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Osteoporosis ORPHA:99880
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Osteoporo... ORPHA:99413
Turner Syndrome
Osteopenia, Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Osteoporo... ORPHA:881
Mosaic Monosomy X
Osteopenia, Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Osteoporo... ORPHA:99228
Monosomy X
Osteopenia, Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Osteoporo... ORPHA:99226
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Vertebral fusion, Bundle branch block, Camptodactyly of finger, Cardiomyop... ORPHA:373
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Obesity ORPHA:1772

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 Eya3

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 Eya3.

No publications found that use IMPC mice or data for Eya3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Eya3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Eya3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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