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Gene: Rab33b MGI:1330805

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Gene Summary

Name:
RAB33B, member RAS oncogene family
Synonyms:
N/A

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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
increased circulating aspartate transaminase level Rab33bem1(IMPC)J HOM Early adult 0.00
prolonged PR interval Rab33bem1(IMPC)J HOM Early adult 7.60×10-08

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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 Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Electroretinography 3

Fundus file

15 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Forepaw

11 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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Human diseases caused by Rab33b mutations

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

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

The table below shows human diseases associated to Rab33b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Smith-Mccort Dysplasia 2
OMIM:615222

The table below shows human diseases predicted to be associated to Rab33b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome 2
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... OMIM:611777
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... OMIM:113900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Increased circulating creatine kinase MB isoform, Right ve... OMIM:610193
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Cardiomyopathy, Dilated, 1U
Syncope, Severely reduced left ventricular ejection fraction, First degree atrioventricular block... OMIM:613694
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Cardiomyopathy, Dilated, 1L
Reduced left ventricular ejection fraction, Elevated circulating creatine kinase concentration, S... OMIM:606685
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
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
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Long Qt Syndrome 16
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans OMIM:618782
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular escape rhythm ORPHA:542306
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, First degree atrioventricular block, Left bu... OMIM:613697
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... OMIM:108950
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Palpitations, First degree atrioventricular block, Sudden cardiac death, Elevated ... OMIM:310300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block OMIM:615616
Atrial Septal Defect, Ostium Primum Type
Right bundle branch block, Pulmonary arterial hypertension, Third heart sound, Mitral regurgitati... ORPHA:99106
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased circulating cr... OMIM:302045
Cardiomyopathy, Dilated, 1Oo
Reduced left ventricular ejection fraction, Second degree atrioventricular block, Premature ventr... OMIM:620247
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... OMIM:614049
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Sudden cardiac deat... OMIM:617047
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:309930
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Syncope, Arrhythmia, ... OMIM:181350
Congenital Myopathy 5 With Cardiomyopathy
Arrhythmia, Severely reduced left ventricular ejection fraction, Elevated circulating creatine ki... OMIM:611705
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure ORPHA:871
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Supraventricular tachycardia, Atrioventricular block, Dilated cardiomyopathy, Hyp... OMIM:612158
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
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
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Congenital Myopathy 24
Cardiomyopathy, Abnormal circulating creatine kinase concentration, First degree atrioventricular... OMIM:617336
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... OMIM:615184
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... OMIM:615344
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... OMIM:601419
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Gitelman Syndrome
Raynaud phenomenon, Abnormal T-wave, Syncope, Palpitations, Low-to-normal blood pressure, Hypokal... ORPHA:358
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Danon Disease
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... OMIM:300257
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Desminopathy
Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Supraventricular arrhythmia, Conges... ORPHA:98909
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Hyperammonemia, Hypotension, Cardiomyopathy, Elevated ci... OMIM:212138
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Elevated circulating creatine kinase... OMIM:616812
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, First degree atrioventricula... OMIM:115197
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Steinert Myotonic Dystrophy
Prolonged QRS complex, Left ventricular systolic dysfunction, Hypercholesterolemia, Supraventricu... ORPHA:273
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Hypocalcemia, B... OMIM:601005
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Ventricular tachycardia, Hyperammonemia, Tachycardia, Arrhythmia, Elevated circu... ORPHA:26793
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... ORPHA:98855
Heart Block, Congenital
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Absent atrioventricular node, Atria... OMIM:234700
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... ORPHA:261
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulat... OMIM:232300
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Mitral regurgitation, Systolic heart murmur, Right ventricular f... ORPHA:99103
Complete Atrioventricular Septal Defect
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... ORPHA:1329
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Sudd... ORPHA:98863
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... OMIM:261740
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Atrioventricular b... ORPHA:398124
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... ORPHA:1677
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block OMIM:619814
Thyrotoxic Periodic Paralysis
Palpitations, Impaired myocardial contractility, Second degree atrioventricular block, Transient ... ORPHA:79102
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Hypertension, Second degree atrioventricular block, Hypokalemia,... OMIM:615474
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Pulmonary arterial hypertension, Hypertension, Hypoalbuminemia, Second degree atrioventricular block OMIM:617021
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Elevated circula... ORPHA:308552
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Supraventricu... ORPHA:137675
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... ORPHA:216694
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Intracranial hemorrhage, Hypertension, Second degree atrioventri... ORPHA:369929
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Mitral regurgitation, First degree atrioventricular block, Aortic regurgitation, Tricuspid regurg... OMIM:620066
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block ORPHA:589821
Kearns-Sayre Syndrome
Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block ORPHA:40366
Fabry Disease
Abnormal circulating lipid concentration, Mitral regurgitation, Telangiectasia of the skin, Arrhy... ORPHA:324
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Intermittent claudication, Atrioventricular block, Hyperoxaluria, Arterial oc... OMIM:259900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Left ventricular outflow tract obstruction, Elevated circulating creatine kinase conc... ORPHA:365
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:614947
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Hypertension, Hypokalemia, Hypertriglyceridemia, Elevated circul... OMIM:619573
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction ORPHA:581
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Leptospirosis
Hypotension, Arrhythmia, Hyperproteinemia, First degree atrioventricular block, Subconjunctival h... ORPHA:509
Meier-Gorlin Syndrome 7
Heart block, Second degree atrioventricular block OMIM:617063
Leopard Syndrome 1
Third degree atrioventricular block, Bundle branch block, Pulmonic stenosis, Hypertrophic cardiom... OMIM:151100
African Trypanosomiasis
Myocarditis, Abnormal EKG, Arrhythmia, Second degree atrioventricular block, Congestive heart fai... ORPHA:3385
Smith-Mccort Dysplasia 2
OMIM:615222

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 Rab33b

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 Rab33b.

No publications found that use IMPC mice or data for Rab33b.

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
Rab33btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rab33btm46140(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rab33bem1(IMPC)J Exon Deletion Mice
Rab33btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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