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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,  DXBwg1492e,  Nrage

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 HOM Early adult 0.00
prolonged RR interval Maged1em1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Maged1em1(IMPC)Mbp HEM Early adult 0.00
decreased heart rate Maged1em1(IMPC)Mbp HEM Early adult 0.00
increased freezing behavior Maged1em1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Maged1em1(IMPC)Mbp HOM Early adult 0.00
prolonged RR interval Maged1em1(IMPC)Mbp HEM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia OMIM:611938
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Obsolete: Early-Onset Schizophrenia
Emotional lability, Impairment in personality functioning, Abnormal emotion/affect behavior, Suic... ORPHA:96369
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Long Qt Syndrome 16
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans OMIM:618782
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... OMIM:618447
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... OMIM:616201
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602086
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602087
Atrial Fibrillation, Familial, 9
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... OMIM:613980
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... OMIM:614049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... OMIM:614022
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Sudden Cardiac Failure, Infantile
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... OMIM:617222
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... OMIM:163800
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... OMIM:614916
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... OMIM:612124
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractions, Permanent atrial fib... OMIM:611493
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... ORPHA:101016
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... OMIM:601419
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... OMIM:611528
Atrial Fibrillation, Familial, 3
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... OMIM:607554
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... OMIM:601494
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Jervell And Lange-Nielsen Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval OMIM:220400
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Long Qt Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... OMIM:192500
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... OMIM:615441
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Cardiomyopathy, Dilated, 1O
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... OMIM:608569
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Short Qt Syndrome 1
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... OMIM:609620
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Cln3 Disease
Ataxia, Anxiety, Loss of ambulation, Aggressive behavior, Bradykinesia, Bradycardia, T-wave inver... ORPHA:228346
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... OMIM:615745
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Irritability, Premature ven... OMIM:212138
Long Qt Syndrome 3
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... OMIM:603830
Long Qt Syndrome 12
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation OMIM:612955
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... OMIM:115000
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Trimethylaminuria
Hypertension, Depression, Tachycardia OMIM:602079
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Bradycardia, Irritability, Hypertrophic cardiomyopathy OMIM:618235
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... OMIM:618920
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure ORPHA:871
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... OMIM:600884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Short Qt Syndrome 7
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation OMIM:620231
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... OMIM:607450
Cardiomyopathy, Dilated, 2F
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... OMIM:613251
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular escape rhythm ORPHA:542306
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... ORPHA:66529
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death OMIM:604401
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Narcolepsy 3
Narcolepsy OMIM:609039
Childhood Disintegrative Disorder
Impaired social interactions, Abnormal emotion/affect behavior, Anxiety, Motor deterioration, Dem... ORPHA:168782
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... OMIM:608758
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... ORPHA:45452
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... OMIM:609040
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Arrhythmia, Cardiomyopathy, Bradycardia, Depression OMIM:609286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block OMIM:615616
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... OMIM:615184
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Idiopathic Congenital Hypothyroidism
Bradycardia, Lethargy ORPHA:95717
Brugada Syndrome 2
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... OMIM:611777
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Syncope, Palpitations, Second degree atrioventricular block, Loss of ambulati... OMIM:616812
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Reduced left ventricular ejection fraction, Palpitations, Sudden cardiac death, R... OMIM:608751
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... OMIM:108950
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology, Hyperhidrosis OMIM:615548
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block OMIM:619814
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment ORPHA:1055
Illum Syndrome
Bradycardia OMIM:208155
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Truncal ataxia OMIM:614407
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Myocardial infarction, Congestive heart failure, Orthostatic hypotensio... ORPHA:330001
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension OMIM:616299
Narcolepsy 1
Narcolepsy OMIM:161400
Glycogen Storage Disease Xv
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... OMIM:613507
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pr... OMIM:601005
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Glossopharyngeal Neuralgia
Syncope, Anxiety, Bradycardia, Jaw claudication, Depression ORPHA:221098
Coproporphyria, Hereditary
Anxiety, Hypertension, Depression, Tachycardia OMIM:121300
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atrial fibri... OMIM:613873
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Bipolar affective disorder, Shuffling gait, Irritability,... ORPHA:3077
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Abnormal autonomic nervous system physiology OMIM:156310
Familial Thyroid Dyshormonogenesis
Bradycardia, Lethargy ORPHA:95716
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypertrophic cardiomyopathy OMIM:614702
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... OMIM:261740
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Cardiomyopathy, Dilated, 1Y
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... OMIM:611878
Narcolepsy 7
Narcolepsy OMIM:614250
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... ORPHA:439232
Tetanus
Bradycardia, Hypertension, Tachycardia ORPHA:3299
Pseudo-Torch Syndrome 2
Bradycardia, Lethargy, Cerebral hemorrhage OMIM:617397
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Necrotizing Enterocolitis
Bradycardia, Lethargy, Shock, Hypotension ORPHA:391673
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... ORPHA:216694
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Ebstein Anomaly
Right bundle branch block, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, At... OMIM:224700
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 37
Bradycardia, Pulmonary arterial hypertension OMIM:619272
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block ORPHA:40366
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Loss of ambulation, Tip-toe gait ORPHA:565624
Parkinson Disease 4, Autosomal Dominant
Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:605543
Acquired Methemoglobinemia
Syncope, Anxiety, Palpitations, Arrhythmia, Tachycardia ORPHA:464453
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Encephalitis Lethargica
Bradycardia, Lethargy ORPHA:83600
Paragangliomas 3
Palpitations, Tachycardia, Episodic paroxysmal anxiety, Hypertension associated with pheochromocy... OMIM:605373
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy OMIM:618775
Arrhythmogenic right ventricular dysplasia, familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Lethargy, Irritability OMIM:229700
Pure Autonomic Failure
Anhidrosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension ORPHA:441
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... ORPHA:2041
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia OMIM:613327
Peripartum Cardiomyopathy
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... ORPHA:563
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Lethargy ORPHA:90673
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Lethargy, Depression ORPHA:90674
D-Glyceric Aciduria
Bradycardia OMIM:220120
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Dilated cardiomyopathy OMIM:610768
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology, Hyperhidrosis OMIM:618049
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity ORPHA:139578
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Complete Atrioventricular Septal Defect
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... ORPHA:1329
Proximal Spinal Muscular Atrophy
Bradycardia, Inability to walk, Difficulty walking ORPHA:70
Indifference To Pain, Congenital, Autosomal Recessive
Hypohidrosis, Anhidrosis, Abnormal autonomic nervous system physiology, Abnormal nerve conduction... OMIM:243000
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
Neuroleptic Malignant Syndrome
Hypotension, Arrhythmia, Anxiety, Hypertension, Pulmonary embolism, Bradycardia, Tachycardia, Hyp... ORPHA:94093
Abnormal Hair, Joint Laxity, And Developmental Delay
Aggressive behavior, Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Lujo Hemorrhagic Fever
Myocarditis, Hypotension, Anxiety, Subconjunctival hemorrhage, Shock, Bradycardia ORPHA:319213
Stiff-Person Syndrome
Agoraphobia, Anxiety, Hypertension, Tachycardia, Depression OMIM:184850
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Tachycardia, Retinal hemorrhage OMIM:614653
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Paragangliomas 1
Palpitations, Tachycardia, Episodic paroxysmal anxiety, Hypertension associated with pheochromocy... OMIM:168000
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Patent ductus arteriosus OMIM:613870
Erythermalgia, Primary
Abnormal autonomic nervous system physiology, Hyperhidrosis OMIM:133020
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:85447
Crimean-Congo Hemorrhagic Fever
Myocarditis, Emotional lability, Pulmonary arterial hypertension, Diffuse alveolar hemorrhage, Hy... ORPHA:99827
Multiple System Atrophy
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:102
Pheochromocytoma--Islet Cell Tumor Syndrome
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... OMIM:171420
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Abnormal autonomic nervous system physiology, Aganglionic megacolon OMIM:243180
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Riboflavin Transporter Deficiency
Facial palsy, Abnormal cranial nerve morphology, Optic disc pallor, Abnormal autonomic nervous sy... ORPHA:97229
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Marburg Hemorrhagic Fever
Hypotension, Capillary leak, Lethargy, Aggressive behavior, Subconjunctival hemorrhage, Shock, Hy... ORPHA:99826
Multiple System Atrophy, Parkinsonian Type
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:98933
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Lethargy OMIM:218700
Sheehan Syndrome
Bradycardia, Palpitations, Orthostatic hypotension ORPHA:91355
Bohring-Opitz Syndrome
Bradycardia, Happy demeanor, Inability to walk ORPHA:97297
Cardiomyopathy, Dilated, 1S
Pulmonary arterial hypertension, Ventricular tachycardia, Mitral regurgitation, Reduced left vent... OMIM:613426
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Supraventricu... ORPHA:137675
Porphyria, Acute Intermittent
Anxiety, Hypertension, Depression, Tachycardia OMIM:176000
Multiple System Atrophy, Cerebellar Type
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Abnormal autonomic nervous system ... ORPHA:227510
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Hyperhidrosis OMIM:600072
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology ORPHA:168593
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Paragangliomas 4
Palpitations, Tachycardia, Episodic paroxysmal anxiety, Hypertension associated with pheochromocy... OMIM:115310
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:314652
Yellow Fever
Reduced left ventricular ejection fraction, Capillary leak, Supraventricular arrhythmia, Hemateme... ORPHA:99829
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Lethargy ORPHA:226307
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Lambert-Eaton Myasthenic Syndrome
Hypohidrosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autono... ORPHA:43393
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Abnormal autonomic nervous system physiology, Decreased distal sensory nerve action potential OMIM:614575
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Anhidrosis, Abnormal autonomic nervous system... OMIM:256800
Pheochromocytoma
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... OMIM:171300
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology ORPHA:363722
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Haddad Syndrome
Abnormal autonomic nervous system physiology, Aganglionic megacolon ORPHA:99803
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Multiple System Atrophy 1, Susceptibility To
Hypohidrosis, Anhidrosis, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:146500
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Caribbean Parkinsonism
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotension ORPHA:97355
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Difficulty walking OMIM:619482
Attrv122I Amyloidosis
Abnormal autonomic nervous system physiology, Abnormality of enteric nervous system morphology ORPHA:85451
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy ORPHA:79404
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology OMIM:617903
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension OMIM:231550
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
Optic neuropathy, Abnormal autonomic nervous system physiology ORPHA:478029
Fabry Disease
Hypohidrosis, Abnormal autonomic nervous system physiology OMIM:301500
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Abnormal auditory ev... ORPHA:99027
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypohidrosis, Short-segment aganglionic megacolon, Absent brainstem auditory responses, Decreased... OMIM:609136
Central Hypoventilation Syndrome, Congenital, 1
Abnormal autonomic nervous system physiology, Hyperhidrosis, Aganglionic megacolon OMIM:209880
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology OMIM:168600
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology ORPHA:247234
Ramos-Arroyo Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Patent ductus arteriosus ORPHA:1051
Renal Nutcracker Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension ORPHA:71273
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology ORPHA:171695
Nmda Receptor Encephalitis
Abnormal sudomotor regulation, Abnormal autonomic nervous system physiology, Orthostatic hypotens... ORPHA:217253
Leprosy
Abnormality of the seventh cranial nerve, Hypohidrosis, Abnormal autonomic nervous system physiology ORPHA:548
Stüve-Wiedemann Syndrome
Hypohidrosis, Abnormal autonomic nervous system physiology, Hyperhidrosis ORPHA:3206
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
African Trypanosomiasis
Narcolepsy ORPHA:3385

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

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
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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