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Gene: Ube4a MGI:2154580

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Gene Summary

Name:
ubiquitination factor E4A
Synonyms:
UFD2b,  4732444G18Rik,  9930123J21Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Ube4aem1(IMPC)Tcp HOM Early adult 5.27×10-08
abnormal bone structure Ube4aem1(IMPC)Tcp HOM   Early adult 3.60×10-05
enlarged lymph nodes Ube4aem1(IMPC)Tcp HOM Early adult 0.00
short tibia Ube4aem1(IMPC)Tcp HOM Early adult 1.06×10-08
shortened QT interval Ube4aem1(IMPC)Tcp HOM   Early adult 2.97×10-05
decreased lean body mass Ube4aem1(IMPC)Tcp HOM Early adult 3.92×10-08
decreased bone mineral content Ube4aem1(IMPC)Tcp HOM Early adult 1.44×10-06
impaired glucose tolerance Ube4aem1(IMPC)Tcp HOM Early adult 3.67×10-10

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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

10 Images

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Eye Morphology

Images Slit Lamp

96 Images

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Eye Morphology

Images Ophthalmoscopy

108 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Ube4a 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 Ube4a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
OMIM:619639

The table below shows human diseases predicted to be associated to Ube4a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Osteoporosis, Hypertensi... OMIM:610947
Eiken Syndrome
Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph... ORPHA:79106
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... ORPHA:45452
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee fle... OMIM:619040
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Parathyroid Carcinoma
Shortened QT interval, Osteoporosis, Weight loss, Lipoma, Chondrocalcinosis ORPHA:143
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Chondrocalcinosis, Osteoporosis, Lipoma ORPHA:99880
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Slc35A2-Cdg
Osteopenia, Failure to thrive in infancy, Camptodactyly of finger, Craniosynostosis, Coxa valga, ... ORPHA:356961
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... OMIM:620076
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Short metatarsal, Prominent U wave, Short palm, Clinodactyly of the 5th finger, Pro... OMIM:170390
Andersen-Tawil Syndrome
Prolonged QT interval, Ventricular arrhythmia, Bidirectional ventricular ectopy, Micrognathia, Po... ORPHA:37553
Multiple Endocrine Neoplasia Type 1
Hematemesis, Shortened QT interval, Osteolysis, Thymoma, Weight loss, Melena, Reduced bone minera... ORPHA:652
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... OMIM:601559
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Splenomegaly,... OMIM:613327
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Hypoglycemia, Hypo... OMIM:607143
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy OMIM:300376
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Cutaneous s... OMIM:601005
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Caffey Disease
Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal bon... OMIM:114000
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, Palmoplantar ke... OMIM:611528
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... OMIM:166740
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphol... ORPHA:1988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia... ORPHA:3035
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... OMIM:616300
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Splenomegaly, Dilated cardiomyopathy, Atrioventricular block,... ORPHA:398124
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Nathalie Syndrome
Abnormal EKG OMIM:255990
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... OMIM:227270
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, ... ORPHA:79444
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Increased bone mineral density, Prolonged QT interval, Ventri... ORPHA:36913
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy... ORPHA:26793
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Joint contracture OMIM:615351
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Diabetes mellitus, Decreased/absent ankle reflexes, Cardiomyopathy, Pes cavus ORPHA:1177
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, ... ORPHA:79443
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac wi... ORPHA:96334
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Enamel hypomineralization, Ricket... OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... OMIM:600081
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Fasting hyperinsulinemia, Hypoglycemic seizures, H... ORPHA:71212
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... ORPHA:198
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... OMIM:603671
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Short tibia, Short femur, Talipes equinovarus OMIM:620306
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Peripartum Cardiomyopathy
Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilated cardiomy... ORPHA:563
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Gitelman Syndrome
Prolonged QT interval, Maternal diabetes, Raynaud phenomenon, Insulin resistance, Low-to-normal b... ORPHA:358
Rett Syndrome
Short foot, Abnormal T-wave, Prolonged QTc interval, Cachexia OMIM:312750
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea... OMIM:300554
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Increased bone mineral density, Cortical subperiosteal resorption of humer... ORPHA:94089
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Clinodactyly of... ORPHA:373
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Microphthalmia With Limb Anomalies
Failure to thrive, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndacty... OMIM:206920
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, Flexion contractur... OMIM:620029
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... ORPHA:75565
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate ... OMIM:263520
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea... OMIM:300009
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Hypoglycemia, Hypoglycemic seizures, Arrhythmia ORPHA:480864
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc... ORPHA:99413
Turner Syndrome
Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc... ORPHA:881
Mosaic Monosomy X
Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc... ORPHA:99228
Monosomy X
Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc... ORPHA:99226
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti... ORPHA:79102
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyo... OMIM:616878
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Weight loss, Bradycar... ORPHA:330001
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Tibial Hemimelia
Absent tibia OMIM:275220
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Failure ... OMIM:602450
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy, Neonatal hypoglycemia ORPHA:66634
Meige Disease
Absence of lymph node germinal center, Pedal edema, Atypical scarring of skin, Lymph node hypopla... ORPHA:90186
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension, Failure to thrive, Cho... OMIM:263800
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Failure to thrive, Pes cavus OMIM:300352
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Abnormal atrioventricular valve physiology, Right... ORPHA:1329
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Failure to thrive in infancy, Micrognathia, Upper limb undergrowth, Trunca... ORPHA:529962
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... ORPHA:958
Osteogenesis Imperfecta, Type Viii
Osteopenia, Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Femoral bowin... OMIM:610915
Dpagt1-Cdg
Prolonged QT interval, Arachnodactyly, Lipodystrophy, Flexion contracture, Osteoporosis, Intracra... ORPHA:86309
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval ORPHA:231111
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Fibrochondrogenesis 1
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... OMIM:228520
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Small for gestational age, Cardiac shunt, Maternal diabetes, Congestive heart failur... ORPHA:860
Friedreich Ataxia
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Areflexia of lower limbs, Hypertrophic... OMIM:229300
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... OMIM:200980
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Acromelic Frontonasal Dysplasia
Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... ORPHA:1827
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Splenomegaly, Failure to thrive, Lymph node hypoplasia OMIM:613179
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl... OMIM:236680
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Prolonged QT interval, Tachycardia, Micrognathia, Short metatarsal, Obesity, Short... ORPHA:1772
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Failure to thrive, Absent tonsils ORPHA:276
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Congenital Sialidosis Type 2
Abnormal EKG, Inguinal hernia, Telangiectasia, Hepatosplenomegaly, Polydactyly, Umbilical hernia ORPHA:93400
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Syncop... ORPHA:230
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Dextrocardia
Abnormal EKG, Congenital hip dislocation, Abnormality of the spleen, Abnormal foot morphology, T-... ORPHA:1666
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Weight loss, Reduced left ventricula... ORPHA:85443
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Inguinal hernia, Sagittal craniosynostosis, ... OMIM:218330
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Crani... OMIM:300373
Cardiac Diverticulum
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Aplasia/Hypoplasia of the sternum, T... ORPHA:1686
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Limited knee flexion/extension, Right bundle branch block, Calf muscle hypertrophy,... ORPHA:268
Kinsship Syndrome
Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl... OMIM:619297
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... ORPHA:70591
Charge Syndrome
Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short t... OMIM:214800
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... OMIM:601992
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Congestive heart failure, Pedal e... ORPHA:980
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Congestive heart failure, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of pr... ORPHA:444077
African Trypanosomiasis
Abnormal EKG, Pericarditis, Splenomegaly, Myocarditis, Congestive heart failure, Hepatosplenomega... ORPHA:3385
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
OMIM:619639

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 Ube4a

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 Ube4a.

No publications found that use IMPC mice or data for Ube4a.

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
Ube4atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ube4atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ube4aem1(IMPC)Tcp Exon Deletion Mice

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