Gene Summary

Name:
RAB4A, member RAS oncogene family
Synonyms:
Rab4

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
decreased circulating creatinine level Rab4atm1b(EUCOMM)Hmgu HOM Early adult 1.80×10-05
prolonged RR interval Rab4atm1b(EUCOMM)Hmgu HOM Early adult 1.53×10-08
decreased heart rate Rab4atm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Adult LacZ

LacZ Images Wholemount

23 Images

Human diseases caused by Rab4a 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 Rab4a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Hypokalemia, Torsade de pointes, Sudden cardiac death, Ventri... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Carnosinuria OMIM:309930
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin OMIM:616299
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration OMIM:161900
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Muscular Dystrophy, Progressive Pectorodorsal
Elevated circulating creatine kinase concentration, Arrhythmia OMIM:310095
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion ORPHA:289601
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Illum Syndrome
Bradycardia, Calcinosis OMIM:208155
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hyponatremia, Decreased circulating renin level, Decreased seru... OMIM:300539
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Hyperalaninemia, Decreased plasma free carnitine, Congestive heart failure OMIM:619048
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Hyperalaninemia OMIM:614654
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Elevated... OMIM:212138
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm ORPHA:542306
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Hydroxykynureninuria
Tachycardia, Hypotension, Aminoaciduria OMIM:236800
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Idiopathic Congenital Hypothyroidism
Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Elevated circulating creatine kinase concentration, Cardiomyopathy, Arrhythmia OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Elevated circulating creatine kinase concentration, Syncope, Atrioventricular ... OMIM:616812
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Arrhythmia, Abnormal left ventricular function, Congestive heart failure,... OMIM:615373
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Myocardial infarction, Arrhythmia ORPHA:54057
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Elevated circulating creatinine concentration, Hyperlipidemia,... ORPHA:439232
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter OMIM:615770
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Timothy Syndrome
Bradycardia, Hypocalcemia, Prolonged QT interval OMIM:601005
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Glutamine Deficiency, Congenital
Bradycardia, Hypoglutaminemia, Hyperammonemia OMIM:610015
Propionic Acidemia
Hyperammonemia, Cardiomyopathy, Arrhythmia ORPHA:35
Variegate Porphyria
Tachycardia OMIM:176200
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial tachyc... OMIM:614022
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Cardiac arrest, Atrial fibrillation, Supraventricular tachycardia, Atriov... OMIM:612158
Tetanus
Bradycardia, Tachycardia, Hypertension, Elevated circulating creatine kinase concentration ORPHA:3299
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Preeclampsia
Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension, Elevated circu... ORPHA:275555
Familial Thyroid Dyshormonogenesis
Bradycardia, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95716
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia OMIM:609286
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Elevated circulating creatinine concentration, Hypotension... ORPHA:542323
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Elevated circulating creatinine concentration ORPHA:567544
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia, Hypokalemia OMIM:613239
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:609040
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Reduced ejection fraction, Arrhythmia, Congestive ... ORPHA:85451
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Hyperphosphatemia,... OMIM:145600
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Hypokalemia OMIM:188580
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Prolonged QT interval, Atrial fibrillation, H... OMIM:613327
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy, Elevated circulating crea... OMIM:618775
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Elevated circulating creatinine concentration OMIM:616733
Coach Syndrome 2
Hypertension, Elevated circulating creatinine concentration OMIM:619111
Neuroleptic Malignant Syndrome
Hypernatremia, Hyponatremia, Arrhythmia, Hyperkalemia, Pulmonary embolism, Hypocalcemia, Hypotens... ORPHA:94093
Cryoglobulinemia, Familial Mixed
Hypertension, Elevated circulating creatinine concentration OMIM:123550
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension, Hyponatremia ORPHA:391673
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... OMIM:224700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration OMIM:612926
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Relapsing Fever
Elevated circulating creatinine concentration, Hypotension, Elevated circulating C-reactive prote... ORPHA:91547
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block ORPHA:40366
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hypertrophic cardiomyopat... ORPHA:276556
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Elevated circulating creatinine concentration OMIM:613095
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin, Congestive heart failure ORPHA:90037
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration, Hypertension, Pulmonary insufficiency OMIM:602088
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia,... OMIM:171420
C3 Glomerulopathy
Hypertension, Elevated circulating creatinine concentration ORPHA:329918
Glossopharyngeal Neuralgia
Syncope, Bradycardia, Jaw claudication ORPHA:221098
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hypertrophic cardiomyopat... ORPHA:276575
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... ORPHA:230
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension, Elevated circulating C-reactive protein concentration ORPHA:90051
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... OMIM:223900
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholeste... ORPHA:90674
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypovolemia, Hypokalemia, Elevated circulating creatinine concentrati... ORPHA:99826
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Yellow Fever
Reduced ejection fraction, Elevated circulating creatinine concentration, Capillary leak, Elevate... ORPHA:99829
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Hypotension, Myocarditis, Elevated circulating C-reactive protein con... ORPHA:319213
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Abnormal circulating protein concentration, Elevated carcinoembryonic antigen level ORPHA:264675
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Transient ischemic attack, Myocardial infarction, Elevated circula... OMIM:274150
Encephalitis Lethargica
Bradycardia ORPHA:83600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Decreased plasma total carnitine, Elevated circulating creatinine concent... OMIM:608836
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Hypoproteinemia, Ventricular tachycardia, Arrhy... ORPHA:26793
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Hemoperitoneum, Diffuse alveolar hemorrhage, Abnormal left ventricula... ORPHA:99827
Myotonic Dystrophy 2
Palpitations, Tachycardia, Elevated circulating creatine kinase concentration OMIM:602668
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia, Hyponatremia ORPHA:91355
Acquired Methemoglobinemia
Syncope, Tachycardia, Arrhythmia, Palpitations ORPHA:464453
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hypertension, Elevated circulating creatinine concentration, Hyper... OMIM:235400
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Hypotension, Myocarditis, Capillary ... ORPHA:36234
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension ORPHA:79155
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Elevated circulating creatinine concentration, Telangiectasia, Retin... ORPHA:247691
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:613426
Acute Interstitial Pneumonia
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... ORPHA:79126
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Elevated circulating creatinine concentration ORPHA:90060
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Hyperbilirubinemia OMIM:218700
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Elevated circulating creatinine concentration, Shock, Hyperkalemia, H... ORPHA:340
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Pheochromocytoma
Hypercalcemia, Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia,... OMIM:171300
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
Juvenile Nephropathic Cystinosis
Hypovolemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcem... ORPHA:411634
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated circulatin... ORPHA:49041
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Myocardial infarction, ... ORPHA:90038
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
Scorpion Envenomation
Increased circulating troponin I concentration, Hypokalemia, Increased circulating NT-proBNP conc... ORPHA:466677
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Oligomeganephronia
Hypertension, Elevated circulating creatinine concentration ORPHA:2260
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy, Abnormal blood ion concentration ORPHA:79404
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Elevated circulating creatinine concentration ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Systolic heart murmur OMIM:617478
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Elevated circulating creatinine concentration, Small vessel vasculitis, Art... ORPHA:93126
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Elevated ... ORPHA:449395
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Portal hypertension, Cardiac arrest, Aortic regurgi... OMIM:619534
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Vitreous hemorrhage, Elevated circulating C-reactive protein concentration, Elevat... ORPHA:91500

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 Rab4a

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 Rab4a.

No publications found that use IMPC mice or data for Rab4a.

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MGI Allele Allele Type Produced
Rab4atm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Rab4atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rab4atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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