Gene Summary

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

IMPC Data Collections

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
decreased body weight Eya3Gt(W096D02)Wrst HOM Early adult 2.65×10-05
decreased exploration in new environment Eya3Gt(W096D02)Wrst HOM Early adult 1.56×10-05

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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
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Large f... ORPHA:45452
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Nathalie Syndrome
Abnormal EKG OMIM:255990
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Apnea, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Exertional dyspnea, Cardia... OMIM:608751
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Supraventricular arrhyth... ORPHA:99105
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Hypoventilation, Congestive he... OMIM:310200
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Achilles tendon contracture, Decreased cervical spine flexion due to cont... OMIM:310300
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Crackles, Exe... ORPHA:563
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Left-to-right shunt, Abnormal P wave, Crackles, Systolic hea... ORPHA:1329
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Dyspnea, Arrhythmia ORPHA:871
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cognitive impairment ORPHA:1177
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Cardiogenic Shock
Right ventricular failure, Hypoxemia, Crackles, Mitral regurgitation, Low pulse pressure, Elevate... ORPHA:97292
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Tachypnea, Palpitations, Elevated jugula... ORPHA:2041
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Weight loss, B... ORPHA:330001
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Respira... OMIM:601419
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Palpitations, ST segment depre... ORPHA:358
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Attrv30M Amyloidosis
Atrioventricular block, Weight loss, Arrhythmia, Cardiomyopathy ORPHA:85447
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Desminopathy
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Respiratory insufficiency due to ... ORPHA:98909
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, Knee flexion contractur... OMIM:619040
Rett Syndrome
Dementia, Abnormal T-wave, Cachexia, Apnea, Prolonged QTc interval, Motor deterioration, Intermit... OMIM:312750
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Exertional dyspnea, Right bundle branch bl... ORPHA:263297
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Prolonged QRS complex, Respiratory insufficiency, Obstructive sleep apnea... ORPHA:273
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... OMIM:115197
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Atrioventricular block, Abnormal atrioventricular conduction, Neonatal inspiratory stridor, Conge... OMIM:118230
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Cognitive impairment, Prolonge... ORPHA:90065
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal QRS complex, Abnormality of blood circulation, Small for gestational age, Tac... ORPHA:860
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Increased QRS voltage, Abnormal puls... ORPHA:3093
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Obstructive sleep apnea, Increased circulating trop... ORPHA:85443
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Dementia, Orthostatic hypotension, Atrioventricular block, Abnormal atrioventricular conduction, ... OMIM:118301
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Irritability, Increased bone mineral density, Anxi... ORPHA:36913
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Respiratory insufficiency, Failure to thrive, Respiratory insufficie... ORPHA:308552
Lyme Disease
Atrioventricular block, Arrhythmia, Arthritis, Memory impairment ORPHA:91546
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Reduced FEV1/FVC ratio, Pulmon... ORPHA:70591
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Atrioventricular block, Bradycardia, Joint contracture of the 5th finger OMIM:614407
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Ventricular escape rhy... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Ventricular escape rhy... ORPHA:261
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Pneumonia, Small for gestational age, Tachypnea, A... ORPHA:26793
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Limited knee flexion/extension, Limited hip movement, Right bundle bra... ORPHA:268
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Sudden cardiac death, Ventricular escape rhythm, Atrioventricular bl... ORPHA:98863
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Sudden cardiac death, Ventricular escape rhythm, Atrioventricular block, ... ORPHA:98855
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart failure OMIM:229300
Histiocytoid Cardiomyopathy
Atrial fibrillation, Tachypnea, Atrioventricular block, Ventricular tachycardia, Supraventricular... ORPHA:137675
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... ORPHA:1677
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Prolonged QT interval, Diaphyseal sclerosis, Irritabi... ORPHA:94089
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block OMIM:616812
Recessive Mitochondrial Ataxia Syndrome
Cognitive impairment, ST segment elevation ORPHA:94125
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Osteolysis involving bones of the lower limbs, Atrioventricular block, Increased su... ORPHA:371428
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Respiratory insufficiency, Left ventricular outflow tract obstructio... ORPHA:365
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... ORPHA:398124
Myotonic Dystrophy 1
First degree atrioventricular block, Respiratory distress, Atrial flutter, Atrial fibrillation OMIM:160900
Absence Of The Pulmonary Artery
Hypocapnia, Reduced ejection fraction, Systolic heart murmur, Bronchiectasis, Atrial fibrillation... ORPHA:980
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Epistaxis ORPHA:231625
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Dopamine Beta-Hydroxylase Deficiency
Syncope, Rhinitis, Orthostatic hypotension, Orthostatic syncope, Abnormal EKG, Dyspnea ORPHA:230
Glycogen Storage Disease Ii
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Wolff-Parkinson-Whit... OMIM:232300
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiac conduction abnormality, Failure to thrive, Aggressive behavior, Apnea, P... ORPHA:2131
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Flexion contracture OMIM:615351
Holt-Oram Syndrome
First degree atrioventricular block, Atrioventricular block, Joint stiffness, Paroxysmal atrial f... ORPHA:392
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pneumonia OMIM:601005
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Palpitations, Weight loss, Respiratory paralysis, Obesity, Shortened PR in... ORPHA:79102
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Failure to thrive, Osteoporosis, Tachycardia, Bradyca... OMIM:613327
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Chronic pulmonary obstruction, Respiratory insufficien... ORPHA:324
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Cocaine Intoxication
Wheezing, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachy... ORPHA:90068
Kearns-Sayre Syndrome
Cardiomyopathy, Dementia, Third degree atrioventricular block, Arrhythmia OMIM:530000
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Bidirectional ventricular ectopy, Prolonged QT interval, Palpitations,... OMIM:170390
Familial Hyperaldosteronism Type Iii
Hypertension, Intracranial hemorrhage, Epistaxis, Prolonged QT interval ORPHA:251274
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... OMIM:600309
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Cardiac Diverticulum
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... ORPHA:1686
Scorpion Envenomation
Prominent U wave, Myocarditis, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Hyperoxaluria, Primary, Type I
Atrioventricular block, Raynaud phenomenon, Intermittent claudication, Pathologic fracture, Arter... OMIM:259900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Epistaxis, Pulmonary arterial hypertension, Second degree ... ORPHA:369929
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Con... OMIM:229310
Ethylene Glycol Poisoning
Shock, Hypertension, Episodic respiratory distress, Prolonged QT interval, Abnormal pattern of re... ORPHA:31826
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... OMIM:601992
Heart Block, Congenital
Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Atria... OMIM:234700
Drug-Induced Lupus Erythematosus
Dyspnea, Prolonged QTc interval, Pericarditis ORPHA:231111
African Trypanosomiasis
Myocarditis, Third degree atrioventricular block, Pericarditis, Aggressive behavior, Weight loss,... ORPHA:3385
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, Crackles, Tachypnea, ST segment depression, Abnormal puls... ORPHA:466650
Mucopolysaccharidosis Type 3
Dementia, Obstructive sleep apnea, Reduced ejection fraction, Atrioventricular block, Increased s... ORPHA:581
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Respiratory insufficiency, Atrioventricular block, Cardiorespiratory arrest, Arrhythmia ORPHA:93317
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Cerebellar-Facial-Dental Syndrome
Contractures involving the joints of the feet, Abnormal T-wave, Failure to thrive ORPHA:444072
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Obesity, Ectopic ossification, Irritability, Increased bone mineral densit... ORPHA:79444
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval, Obesity, Ectopic ossification, Reduced bone mineral density,... ORPHA:79443
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... OMIM:302900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:71212
17Q24.2 Microdeletion Syndrome
Mood swings, Failure to thrive in infancy, Prolonged QT interval, Aggressive behavior, Truncal ob... ORPHA:529962
Gitelman Syndrome
Prolonged QT interval, Palpitations, Ventricular tachycardia, Failure to thrive, Hypotension OMIM:263800
Woodhouse-Sakati Syndrome
Mental deterioration, Abnormal T-wave, Osteopenia ORPHA:3464
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Ventricular tachycardia, Torsade de pointes, Prolonged QTc interval,... OMIM:616878
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Failure to thrive, Aggressive behavior, Osteoporo... ORPHA:86309
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval ORPHA:66634
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Bundle branch block, Pulmonic s... OMIM:151100
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Parathyroid Carcinoma
Shortened QT interval, Weight loss, Osteoporosis ORPHA:143
Leptospirosis
Pericarditis, Subconjunctival hemorrhage, Cough, Pulmonary hemorrhage, Respiratory distress, Arrh... ORPHA:509
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Small for gestational ... OMIM:619573
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Osteoporosis ORPHA:99880
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hypertension, Increased susceptibility to fractures, Weight loss, Melena, ... ORPHA:652
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypertension, Failure to thrive in infancy, Prolonged QT interval, Obesity, Osteoporosis, Osteope... ORPHA:99413
Turner Syndrome
Hypertension, Failure to thrive in infancy, Prolonged QT interval, Obesity, Osteoporosis, Osteope... ORPHA:881
Mosaic Monosomy X
Hypertension, Failure to thrive in infancy, Prolonged QT interval, Obesity, Osteoporosis, Osteope... ORPHA:99228
Monosomy X
Hypertension, Failure to thrive in infancy, Prolonged QT interval, Obesity, Osteoporosis, Osteope... ORPHA:99226
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Vertebral fusion, Cardiomyopathy, Bundle branch block, Camptodactyly of fi... ORPHA:373
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity, Prolonged QT interval, Tachycardia 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

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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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