Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nucleobindin 2
Synonyms:
NEFA,  Calnuc,  nesfatin-1

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nucb2 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 Nucb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
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
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Muscular Dystrophy, Progressive Pectorodorsal
Elevated circulating creatine kinase concentration, Arrhythmia OMIM:310095
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
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, Hypokalemia, Torsade de poin... ORPHA:101016
Atrial Fibrillation, Familial, 4
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... OMIM:611493
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
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
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:612999
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin OMIM:616299
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Elevated circulating creatine kinase concentration, Atrioventr... OMIM:212138
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Bradycardia, Congestive heart failure, Hyperalaninemia OMIM:619048
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Arrhythmia, Hypertriglyceridemia, Elevated circulating c... OMIM:616516
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Atrial fibrillation, Mitral regurgitation, Ve... ORPHA:217607
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Hyperalaninemia OMIM:614654
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Elevated circulating creatine kinase concentration, Atrioventricular ... OMIM:616812
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy OMIM:192600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation OMIM:615770
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Idiopathic Congenital Hypothyroidism
Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... OMIM:615373
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Tetanus
Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Tachycardia ORPHA:3299
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia OMIM:601005
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... ORPHA:439232
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy OMIM:613873
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia,... OMIM:145600
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Bradycardia, Neonatal hyperbilirubinemia ORPHA:95716
Glutamine Deficiency, Congenital
Bradycardia, Hypoglutaminemia, Hyperammonemia OMIM:610015
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Variegate Porphyria
Tachycardia OMIM:176200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Elevated circulating creatine kinase concentration, T... OMIM:613327
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia, Hypokalemia OMIM:613239
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypertension, Hypernatremia, Elevated circulating creatine kinase con... ORPHA:94093
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Hypokalemia OMIM:188580
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... OMIM:600996
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615344
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Palpitations, Tachycardia, Decreased circulating free fatty... ORPHA:276556
Necrotizing Enterocolitis
Shock, Hyponatremia, Bradycardia, Hypotension ORPHA:391673
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... OMIM:224700
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Bradycardia, Neonatal hyperbilirubinemia ORPHA:90673
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Congestive heart failure,... OMIM:171420
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Increased total bilirubin ORPHA:90037
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Bradycardia ORPHA:90051
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Tachycardia, Abnormal circulating protein concentration ORPHA:264675
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Bradycardia, Neonatal hyperbiliru... ORPHA:90674
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Tachycardia, Palpitations OMIM:602668
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Elevated circulating C-reactive prot... ORPHA:319213
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hypertension, Retinal hemorrhage, Subdural hemorrhage, Elevated circulating creatine... ORPHA:99827
Marburg Hemorrhagic Fever
Shock, Hyperamylasemia, Pericarditis, Hypokalemia, Elevated circulating creatine kinase concentra... ORPHA:99826
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Prolonged QT interval, Elevated circulating creatine kin... ORPHA:26793
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Tachycardia,... ORPHA:368
Sheehan Syndrome
Orthostatic hypotension, Hyponatremia, Bradycardia, Palpitations ORPHA:91355
Yellow Fever
Shock, Reduced ejection fraction, Elevated circulating creatine kinase concentration, Elevated ci... ORPHA:99829
Encephalitis Lethargica
Bradycardia ORPHA:83600
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Hydroxykynureninuria
Tachycardia, Abnormal circulating tryptophan concentration, Hypotension ORPHA:79155
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Tricuspid regurgitation, Mitral regurgitation OMIM:261990
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Hyperbilirubinemia OMIM:218700
Pheochromocytoma
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Congestive heart failure,... OMIM:171300
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Hypokalemia, Card... ORPHA:466677
Histiocytoid Cardiomyopathy
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... ORPHA:137675
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia, Abnormal blood ion concentration ORPHA:79404
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482

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 Nucb2

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 Nucb2.

No publications found that use IMPC mice or data for Nucb2.

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MGI Allele Allele Type Produced
Nucb2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nucb2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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