Gene Summary

Name:
diacylglycerol kinase, beta
Synonyms:
DGK-beta,  C630029D13Rik

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
hyperactivity Dgkbem1(IMPC)J HOM   Early adult 4.47×10-05
prolonged RR interval Dgkbem1(IMPC)J HOM Early adult 7.31×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Human diseases caused by Dgkb 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 Dgkb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior OMIM:300830
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Developmental And Epileptic Encephalopathy 56
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait OMIM:617665
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Familial Alzheimer-Like Prion Disease
Anxiety, Attention deficit hyperactivity disorder, Emotional lability ORPHA:280397
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior OMIM:619639
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Difficulty walking OMIM:619191
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety OMIM:616977
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Ataxia, Attention deficit hyperactivity disorder, Emotional lability OMIM:614306
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619467
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Anxiety, Attention deficit... ORPHA:98818
Lipoyltransferase 1 Deficiency
Dystonia, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, Hyperactivity, Happy demeanor, Broad-based gait ORPHA:411515
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Palpitations, Atrioventricular block, Loss of ability to walk, Diffic... OMIM:616812
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk OMIM:618718
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior ORPHA:101039
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia OMIM:609152
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Bradycardia OMIM:617248
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention defic... ORPHA:1929
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Idiopathic Congenital Hypothyroidism
Bradycardia, Lethargy ORPHA:95717
Gand Syndrome
Hyperactivity OMIM:615074
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Dystonia, Bradycardia, Truncal ataxia OMIM:614407
Hyperphosphatasia With Mental Retardation Syndrome 6
Hyperactivity, Aggressive behavior OMIM:616809
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia OMIM:610042
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... ORPHA:1942
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Happy demeanor, Ataxia OMIM:614104
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:300354
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia ORPHA:363400
Histidinemia
Hyperactivity ORPHA:2157
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia ORPHA:228402
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... ORPHA:168491
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Bradycardia, Arrhythmia, Cardiomyopathy OMIM:609286
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Emotional lability, Unsteady gait ORPHA:35069
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Gait at... OMIM:610217
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance ORPHA:163681
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Lethargy OMIM:617397
Fragile X Syndrome
Hyperactivity OMIM:300624
X-Linked Adrenoleukodystrophy
Attention deficit hyperactivity disorder, Gait disturbance, Aggressive behavior, Hyperactivity ORPHA:43
Smith-Magenis Syndrome
Hyperactivity, Self-mutilation, Head-banging OMIM:182290
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Anxiety, Aggressive behavior, Ataxia OMIM:618430
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior OMIM:252920
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:609625
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia OMIM:300486
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... OMIM:123450
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Pulmonic stenosis OMIM:619239
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia OMIM:601853
Illum Syndrome
Bradycardia OMIM:208155
Mend Syndrome
Hyperactivity, Aortic valve stenosis OMIM:300960
Familial Thyroid Dyshormonogenesis
Bradycardia, Lethargy ORPHA:95716
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Ataxia, Hyperactivity, Broad-based gait ORPHA:98794
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability ORPHA:447980
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Low frustration tolerance ORPHA:363686
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity OMIM:614613
Pediatric-Onset Graves Disease
Hypertension, Atrial fibrillation, Palpitations, Hyperactivity, Congestive heart failure, Sinus t... ORPHA:525731
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Asymmetric septal hypertrophy OMIM:252900
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Lethargy ORPHA:391673
Tetanus
Hypertension, Bradycardia, Tachycardia ORPHA:3299
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hyperactivity, Aggressive behavior, Shuffling gait, Low frustration tolerance OMIM:300534
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Hyperactivity, Inability to walk, A... ORPHA:72
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Combined Oxidative Phosphorylation Defect Type 39
Loss of ability to walk, Leg dystonia, Tip-toe gait, Bradycardia ORPHA:565624
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Irritability, Lethargy ORPHA:247585
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:300912
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Legius Syndrome
Dystonia, Paroxysmal atrial tachycardia, Pulmonic stenosis, Hyperactivity, Attention deficit hype... ORPHA:137605
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:85293
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Prolonged QT interval, Tachycardia, Bradycardia OMIM:613327
Angelman Syndrome
Hyperactivity, Progressive gait ataxia, Broad-based gait OMIM:105830
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Asymmetric septal hypertrophy OMIM:252930
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Arrhythmia, Tricuspid regurgitation ORPHA:261211
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Encephalitis Lethargica
Bradycardia, Lethargy ORPHA:83600
Choreoacanthocytosis
Hair-pulling, Lingual dystonia, Self-injurious behavior, Loss of ambulation, Aggressive behavior,... ORPHA:2388
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Lethargy ORPHA:90673
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Isolated Thyroid-Stimulating Hormone Deficiency
Attention deficit hyperactivity disorder, Bradycardia, Lethargy ORPHA:90674
Joubert Syndrome 1
Hyperactivity, Aggressive behavior, Self-mutilation, Ataxia OMIM:213300
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Oculogyric crisi... ORPHA:94093
Proximal Spinal Muscular Atrophy
Inability to walk, Bradycardia, Difficulty walking ORPHA:70
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Wiedemann-Steiner Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Low frustration tolerance ORPHA:319182
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hypertension, Retinal hemorrhage, Subdural hemorrhage, Subconjunctival hemorrhage, H... ORPHA:99827
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Sheehan Syndrome
Orthostatic hypotension, Bradycardia, Palpitations ORPHA:91355
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Dystonia, Hyperactivity, Episodic ataxia ORPHA:1934
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Attention deficit hyperacti... ORPHA:805
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Lethargy OMIM:218700
Marburg Hemorrhagic Fever
Lethargy, Shock, Pericarditis, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Hypovolemia,... ORPHA:99826
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Difficulty walking, Abnormal emotion/affect behavior, Nail-biting ORPHA:642
Bohring-Opitz Syndrome
Inability to walk, Bradycardia ORPHA:97297
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Yellow Fever
Shock, Reduced ejection fraction, Bradycardia, Hematemesis, Supraventricular arrhythmia, Internal... ORPHA:99829
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Lethargy ORPHA:226307
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404

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 Dgkb

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 Dgkb.

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

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MGI Allele Allele Type Produced
Dgkbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dgkbem1(IMPC)J Exon Deletion Mice
Dgkbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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