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Gene: Maged1 MGI:1930187

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Gene Summary

Name:
MAGE family member D1
Synonyms:
Dlxin-1,  5430405L04Rik,  2810433C11Rik,  MAGE-D1,  Nrage,  DXBwg1492e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart rate Maged1em1(IMPC)Mbp HEM Early adult 2.96×10-06
decreased heart rate Maged1em1(IMPC)Mbp HOM Early adult 9.37×10-10
prolonged RR interval Maged1em1(IMPC)Mbp HEM Early adult 5.77×10-07
decreased locomotor activity Maged1em1(IMPC)Mbp HOM Early adult 8.64×10-34
increased freezing behavior Maged1em1(IMPC)Mbp HOM Early adult 5.46×10-09
prolonged RR interval Maged1em1(IMPC)Mbp HOM Early adult 1.18×10-13
decreased vertical activity Maged1em1(IMPC)Mbp HOM Early adult 8.56×10-05
decreased locomotor activity Maged1em1(IMPC)Mbp HEM Early adult 2.26×10-05

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 Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Maged1 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 Maged1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
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
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Cln3 Disease
Ataxia, Aggressive behavior, Depression, Bradykinesia, T-wave inversion, Shuffling gait, Bradycar... ORPHA:228346
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Dysphagia OMIM:620265
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Cardiomyopathy, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia OMIM:609286
Trimethylaminuria
Hypertension, Tachycardia, Depression OMIM:602079
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Congestive heart failure, Abnorma... ORPHA:3077
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... OMIM:616812
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology, Hyperhidrosis OMIM:615548
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Truncal ataxia OMIM:614407
Illum Syndrome
Bradycardia OMIM:208155
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic cardiomyopathy, Polyphagia ORPHA:276556
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Tetanus
Hypertension, Tachycardia, Bradycardia, Dysphagia ORPHA:3299
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Narcolepsy 3
Narcolepsy OMIM:609039
Pseudo-Torch Syndrome 2
Lethargy, Bradycardia, Cerebral hemorrhage OMIM:617397
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Jaw claudication, Depression, Syncope, Bradycardia ORPHA:221098
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic cardiomyopathy, Polyphagia ORPHA:276575
Necrotizing Enterocolitis
Shock, Lethargy, Bradycardia, Hypotension ORPHA:391673
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic cardiomyopathy, Polyphagia ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Tachycardia, Agitation ORPHA:276608
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Agitation, Palpitations, Lethargy, Polyphagia ORPHA:324575
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Narcolepsy 1
Narcolepsy OMIM:161400
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Tip-toe gait, Bradycardia ORPHA:565624
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Tachycardia, Irritability OMIM:229700
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Congenital Myopathy 22A, Classic
Waddling gait, Tricuspid regurgitation, Bradycardia OMIM:620351
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
D-Glyceric Aciduria
Tongue thrusting, Bradycardia OMIM:220120
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Bradycardia, Attention deficit hyperactivity disorder, Depression ORPHA:90674
Proximal Spinal Muscular Atrophy
Inability to walk, Bradycardia, Difficulty walking, Dysphagia ORPHA:70
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Dysphagia OMIM:613327
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Pure Autonomic Failure
Anhidrosis, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology, Hyperhidrosis OMIM:618049
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation OMIM:261990
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Anhidrosis, Abnormal autonomic nervous system physiology, Hyp... OMIM:243000
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology ORPHA:369873
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypotension, Dysphagia, Ar... ORPHA:94093
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hemoperit... ORPHA:99827
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia ORPHA:319213
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Erythermalgia, Primary
Abnormal autonomic nervous system physiology, Hyperhidrosis OMIM:133020
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:85447
Multiple System Atrophy
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:102
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Riboflavin Transporter Deficiency
Optic disc pallor, Abnormal autonomic nervous system physiology, Facial palsy, Abnormal cranial n... ORPHA:97229
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Hypovolemia, Capillary leak, Sub... ORPHA:99826
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Multiple System Atrophy, Parkinsonian Type
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:98933
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Hydroxykynureninuria
Tachycardia, Abnormal repetitive mannerisms, Hypotension ORPHA:79155
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Multiple System Atrophy, Cerebellar Type
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:227510
Bohring-Opitz Syndrome
Inability to walk, Bradycardia ORPHA:97297
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Hyperhidrosis OMIM:600072
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Bradycardia ORPHA:226307
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology ORPHA:168593
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Dysphagia, Difficulty walking, Sinus bradycardia OMIM:619482
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:314652
Melkersson-Rosenthal Syndrome
Abnormal autonomic nervous system physiology, Facial palsy ORPHA:2483
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Dysphagia OMIM:617248
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:43393
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
Insensitivity To Pain, Congenital, With Anhidrosis
Anhidrosis, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system... OMIM:256800
Multiple System Atrophy 1, Susceptibility To
Anhidrosis, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Hypohidrosis OMIM:146500
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology ORPHA:363722
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Haddad Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Caribbean Parkinsonism
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction ORPHA:97355
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology OMIM:617903
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:231550
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology ORPHA:83601
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hyperhidrosis OMIM:209880
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, Abnormal auditory evoked potentials, Decreased sweating due ... ORPHA:99027
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Fabry Disease
Abnormal autonomic nervous system physiology, Hypohidrosis OMIM:301500
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology OMIM:168600
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology ORPHA:247234
Ramos-Arroyo Syndrome
Patent ductus arteriosus, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:1051
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:71273
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology ORPHA:171695
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... ORPHA:353277
Nmda Receptor Encephalitis
Orthostatic tachycardia, Abnormal sudomotor regulation, Abnormal autonomic nervous system physiol... ORPHA:217253
Leprosy
Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology, Hypohidrosis ORPHA:548
Stüve-Wiedemann Syndrome
Hypohidrosis, Abnormal autonomic nervous system physiology, Hyperhidrosis ORPHA:3206

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 Maged1

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 Maged1.

No publications found that use IMPC mice or data for Maged1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Maged1em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Maged1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Maged1tm86286(L1L2_gt0_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Maged1tm86286(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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