Gene Summary

Name:
NADH:ubiquinone oxidoreductase subunit A6
Synonyms:
14kDa,  B230217P19Rik

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
prolonged RR interval Ndufa6em1(IMPC)Bay HET Early adult 8.12×10-07
thick ventricular wall Ndufa6em1(IMPC)Bay HET Early adult 4.04×10-05
embryonic lethality prior to organogenesis Ndufa6em1(IMPC)Bay HOM   E9.5 0.00
preweaning lethality, complete penetrance Ndufa6em1(IMPC)Bay HOM   Early adult 0.00
decreased heart rate Ndufa6em1(IMPC)Bay HET Early adult 6.83×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

Electrocardiogram (ECG)

Waveform Image

4 Images

Human diseases caused by Ndufa6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ndufa6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Complex I Deficiency
Hypertrophic cardiomyopathy ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 33
OMIM:618253

The table below shows human diseases predicted to be associated to Ndufa6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Left ventricular noncompaction, Atrial standstill, Mo... ORPHA:1344
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Ventricular Tachycardia, Familial
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block OMIM:192605
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... OMIM:615745
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... OMIM:609040
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Sudden cardiac death, Polymorp... OMIM:115000
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Bradycardia, Congestive heart failure OMIM:619048
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... OMIM:601005
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... OMIM:600996
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Hypotension, Shortened PR interval, Biventricular hypertrophy, Cardiomy... OMIM:261740
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Ventricular hypertrophy,... OMIM:212138
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... ORPHA:99105
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... ORPHA:2041
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Illum Syndrome
Bradycardia OMIM:208155
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hypertrophy, T-wave inversion, Vent... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Aapoaiv Amyloidosis
Cardiac amyloidosis, Left bundle branch block, Sinus bradycardia, Left ventricular outflow tract ... ORPHA:439232
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation ORPHA:90647
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Hypertrophic cardiomyopathy, Pericardial... OMIM:618775
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia, Conotruncal defect, Atrioventricular canal defect ORPHA:40366
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... ORPHA:563
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Second degree atrioventricular block, Syncope OMIM:616812
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Variegate Porphyria
Tachycardia OMIM:176200
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Abnormal heart morphology ORPHA:391673
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Atrioventricular block, Abnormal P wave, Primum atrial septal defe... ORPHA:1329
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Cerebral hemorrhage, Bradycardia OMIM:617397
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... ORPHA:99103
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Glossopharyngeal Neuralgia
Jaw claudication, Bradycardia, Syncope ORPHA:221098
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Ventricular septal defect, Hypertension, Bradycardia OMIM:614653
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
D-Glyceric Aciduria
Bradycardia OMIM:220120
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Complete heart block with narrow QRS complexes,... ORPHA:1677
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Hypertension, Tachycardia, Atrial septal defect OMIM:613870
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... OMIM:234700
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Encephalitis Lethargica
Bradycardia ORPHA:83600
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Brad... ORPHA:94093
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Lujo Hemorrhagic Fever
Hypotension, Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia ORPHA:319213
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Melena, Abnormal left ventricular function, Hemoperitoneum, Subdural hemorrh... ORPHA:99827
Acquired Methemoglobinemia
Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Tachycardia, Arrhythmia, Ventricular septal defect, Dilated cardiomyopathy,... ORPHA:26793
Paragangliomas 3
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations OMIM:605373
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia ORPHA:91355
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Tetralogy ... ORPHA:3426
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... ORPHA:137675
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... ORPHA:980
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly, Bradycardia ORPHA:97297
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Marburg Hemorrhagic Fever
Hypovolemia, Tachycardia, Hypotension, Shock, Internal hemorrhage, Subconjunctival hemorrhage, Pe... ORPHA:99826
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Shock, Reduced left ventricular ejection fraction, Inte... ORPHA:99829
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... OMIM:618280
Truncus Arteriosus
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... ORPHA:3384
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Isolated Complex I Deficiency
Hypertrophic cardiomyopathy ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 33
OMIM:618253

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 Ndufa6

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 Ndufa6.

No publications found that use IMPC mice or data for Ndufa6.

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MGI Allele Allele Type Produced
Ndufa6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ndufa6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ndufa6em1(IMPC)Bay Exon Deletion Mice

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