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Gene: Gjd3 MGI:2384150

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gap junction protein, delta 3
Synonyms:
Gjc1,  Gja11,  connexin 30.2,  cx30.2,  connexin-30.2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Gjd3 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 Gjd3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Nathalie Syndrome
Abnormal EKG OMIM:255990
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
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
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
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, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Low-output conge... ORPHA:308552
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Vasculitis, Shortened PR interval, Left ventricular outflow tract obst... ORPHA:365
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Myofibrillar Myopathy 10
Prolonged QTc interval, Increased QRS voltage OMIM:619040
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... ORPHA:85443
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Cln3 Disease
T-wave inversion, Bradycardia ORPHA:228346
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... OMIM:170390
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... ORPHA:358
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Congenital Heart Defects, Multiple Types, 9
Pulmonic stenosis, Left axis deviation OMIM:620294
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Atrial Septal Defect 1
Second degree atrioventricular block, Aortic valve stenosis OMIM:108800
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... ORPHA:3385
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication OMIM:259900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy ORPHA:66634
Hamamy Syndrome
Mitral regurgitation, Prolonged QRS complex OMIM:611174
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Cardiomyopathy ORPHA:373
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval ORPHA:86309
Multiple Endocrine Neoplasia Type 1
Melena, Hypertension, Shortened QT interval, Hematemesis ORPHA:652
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99226

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 Gjd3

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 Gjd3.

No publications found that use IMPC mice or data for Gjd3.

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
Gjd3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gjd3tm388837(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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