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Gene: Ubap2l MGI:1921633

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Gene Summary

Name:
ubiquitin-associated protein 2-like
Synonyms:
NICE-4,  4932431F02Rik,  3110083O19Rik,  A430103N23Rik

Order Alleles

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
abnormal embryo size Ubap2lem1(IMPC)Bay HOM E18.5 0.00
abnormal body wall morphology Ubap2lem1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Ubap2lem1(IMPC)Bay HOM   Early adult 0.00
short tibia Ubap2lem1(IMPC)Bay HET   Early adult 7.69×10-05
prolonged RR interval Ubap2lem1(IMPC)Bay HET   Early adult 2.34×10-05

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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 Forepaw

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Ubap2l 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 Ubap2l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing OMIM:246570
Acromesomelic Dysplasia 2C
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... OMIM:201250
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... OMIM:118651
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... OMIM:200700
Osebold-Remondini Syndrome
Type A brachydactyly, Hypoplasia of the radius, Short tibia, Broad toe, Mesomelia, Broad finger, ... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Micromelia, Aplasia/Hyp... ORPHA:2098
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Hypoplasia o... OMIM:249700
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Acheiropody
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... ORPHA:2768
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... OMIM:605274
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... ORPHA:1972
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Sick sinus syndrome, Ulnar deviation of the 2nd finger, Brachydac... OMIM:140450
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia OMIM:611938
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morphology, Short tib... OMIM:127300
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Syndactyly, Sudden cardiac death, ... OMIM:618447
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... OMIM:135750
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... ORPHA:240
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... OMIM:614049
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand OMIM:228250
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Tibial Hemimelia
Absent tibia OMIM:275220
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Endove Syndrome, Limb-Only Type
3-4 finger syndactyly, Triangular tibia, Disproportionate shortening of the tibia, Short middle p... OMIM:619217
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Long Qt Syndrome 16
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans OMIM:618782
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... OMIM:612447
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity... ORPHA:93356
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... OMIM:612576
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Atrial Fibrillation, Familial, 9
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... OMIM:613980
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Aplasi... OMIM:119100
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... ORPHA:2756
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ... OMIM:113310
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Atrial Fibrillation, Familial, 3
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... OMIM:607554
Long Qt Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... OMIM:192500
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, Palmop... OMIM:611528
Jervell And Lange-Nielsen Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval OMIM:220400
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Acheiropodia
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Acromesomelic Dysplasia 2B
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... OMIM:228900
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... ORPHA:93322
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Glenoid fossa hypopla... ORPHA:85170
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... OMIM:616201
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
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Clinodactyly, Fibular... OMIM:201170
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Short Qt Syndrome 1
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... OMIM:609620
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... OMIM:163800
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Long Qt Syndrome 12
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation OMIM:612955
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Short toe, ... ORPHA:79106
Orofaciodigital Syndrome Iv
Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Toe syndactyly, Micrognathia,... OMIM:258860
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... OMIM:614916
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... OMIM:612347
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Bo... ORPHA:3344
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... OMIM:614022
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... ORPHA:101016
Myopathy, Myofibrillar, 1
Hyporeflexia of lower limbs, Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic car... OMIM:601419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... ORPHA:85188
Short Qt Syndrome 7
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation OMIM:620231
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... ORPHA:45452
Sudden Cardiac Failure, Infantile
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... OMIM:617222
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee flexion contr... ORPHA:166016
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... OMIM:601494
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Fibular hypoplasia, Hypoplasia... ORPHA:2634
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Short tibia, Micromelia, Cone-shaped epiphysis, Brach... ORPHA:1505
Laurin-Sandrow Syndrome
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Aplasia/Hypoplasia of the thumb... ORPHA:2378
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip dislocation, Short thumb, Proximal placement of thumb, Tibial deviation of toes, Short tibia,... OMIM:268305
Grant Syndrome
Down-sloping shoulders, Tibial bowing, Micrognathia OMIM:138930
Stuve-Wiedemann Syndrome 1
Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint of the 5th ... OMIM:601559
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Micromelia, Humerora... OMIM:251230
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
Atelosteogenesis Type Iii
Abnormality of the humerus, Hip dislocation, Absent radius, Short tibia, Patellar dislocation, Kn... ORPHA:56305
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Toe syndactyly, Broad thumb, Tibial bowing, Foot oligodactyly, Post... ORPHA:1106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... OMIM:609040
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Arrhythmia, Sh... OMIM:171480
Faciocardiomelic Dysplasia, Lethal
Short thumb, Hypoplasia of the radius, Talipes, Short 5th finger, Hypoplasia of the ulna, Microgn... OMIM:227270
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Short tibia OMIM:258865
Slc35A2-Cdg
Camptodactyly of finger, Abnormal long bone morphology, Short tibia, Coxa valga, Metatarsus adduc... ORPHA:356961
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Delayed epip... OMIM:600785
Acromesomelic Dysplasia 3
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, L... OMIM:609441
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... OMIM:108950
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Ulnar bowing, Coxa vara, Flared... OMIM:602111
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short ribs, Rhizomelia, Short tibia, Short femur, Talipes equinovarus, Hypoplasia ... OMIM:607143
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment ORPHA:1055
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Short ribs, Short tibia, Hypoplastic acetabulae, Ulnar b... OMIM:620076
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial foot polydactyly, Mirr... OMIM:119800
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... OMIM:615745
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Shox-Related Short Stature
Forearm undergrowth, Lower limb undergrowth, Micrognathia, Short foot, Genu valgum, Ulnar radial ... ORPHA:314795
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... ORPHA:66529
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Short ribs, Postaxia... OMIM:613091
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... OMIM:609945
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal widening, Rhizomelia, S... OMIM:608940
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Femoral-Facial Syndrome
Abnormality of fibula morphology, Hip dysplasia, Micrognathia, Preaxial foot polydactyly, Short f... ORPHA:1988
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Rhizomelia, Short tibia, Short... OMIM:616300
Ophthalmomandibulomelic Dysplasia
Coxa valga, Mesomelia, Radial bowing, Fibular hypoplasia, Lateral humeral condyle aplasia OMIM:164900
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular escape rhythm ORPHA:542306
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly, Micrognath... ORPHA:3320
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Omodysplasia 1
Short humerus, Anterolateral radial head dislocation, Rhizomelia, Short tibia, Micrognathia, Hypo... OMIM:258315
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Tapered finger, Long fingers, Atrioventricular block, Bradyc... OMIM:614407
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia of the maxilla, Third d... ORPHA:40366
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Short ribs, Postaxial polysyndactyly of foot, Disproportionate shorteni... OMIM:263520
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Microphthalmia With Limb Anomalies
Foot oligodactyly, Postaxial foot polydactyly, 2-3 toe cutaneous syndactyly, Hip dislocation, Met... OMIM:206920
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Cutaneous syndactyly, Atrioventricular ... OMIM:601005
Orofaciodigital Syndrome Type 2
Hand polydactyly, Y-shaped metacarpals, Limb undergrowth, Polysyndactyly of hallux, Short tibia, ... ORPHA:2751
Wild Type Attr Amyloidosis
Abnormal EKG, Bradycardia, Arrhythmia, Congestive heart failure, Orthostatic hypotension due to a... ORPHA:330001
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Epiphyseal stippling, Interphalangeal joint contracture of finger, Hypertrophic card... ORPHA:96334
Acromelic Frontonasal Dysostosis
Polydactyly, Preaxial polydactyly, Short tibia, Syndactyly, Patellar hypoplasia, Preaxial foot po... OMIM:603671
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology ORPHA:95717
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Short tibia, Short long bone, Fibular hy... OMIM:617925
Dyggve-Melchior-Clausen Disease
Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,... OMIM:223800
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Abnormal pelvic girdle bone morphology, Microretrognathia, Radioulnar synostos... ORPHA:1788
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Eiken Syndrome
Broad metatarsal, Clinodactyly, Flattened epiphysis, Long thumb, Flat acetabular roof, Delayed os... OMIM:600002
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of fibula morphology, Abnormality of the lower limb, Lower limb undergrowth, Microgna... ORPHA:3035
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Atelosteogenesis, Type I
Clubbing, Rhizomelia, Short metatarsal, Knee dislocation, Fibular aplasia, Multinucleated giant c... OMIM:108720
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension OMIM:616299
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block OMIM:619814
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... OMIM:211350
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Bradycardia, A... ORPHA:226313
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Aplasia/Hypoplasia of the mandible, Femoral bowing, Fibular bowing,... ORPHA:85165
Saul-Wilson Syndrome
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Short metatars... OMIM:618150
Glycogen Storage Disease Of Heart, Lethal Congenital
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... OMIM:261740
Acro-Renal-Mandibular Syndrome
Hip dislocation, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypoplasia of... ORPHA:958
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Pedal edema OMIM:126320
Glutamine Deficiency, Congenital
Micromelia, Camptodactyly, Bradycardia OMIM:610015
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Fibrochondrogenesis 1
Camptodactyly, Short ribs, Posterior vertebral hypoplasia, Rhizomelia, Hypoplastic scapulae, Broa... OMIM:228520
Omodysplasia 2
Short humerus, Dislocated radial head, Broad femoral neck, Micrognathia, Fibular hypoplasia, Rhiz... OMIM:164745
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... ORPHA:439232
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology ORPHA:95716
Illum Syndrome
Bradycardia OMIM:208155
Phocomelia, Schinzel Type
Aplasia of the ulna, Foot oligodactyly, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia invo... ORPHA:2879
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... ORPHA:216694
Cln3 Disease
Bradycardia, T-wave inversion ORPHA:228346
Occipital Horn Syndrome
Down-sloping shoulders, Pes planus, Hip dislocation, Hip dysplasia, Abnormality of fibula morphol... ORPHA:198
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypertrophic cardiomyopathy OMIM:614702
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Micrognathia OMIM:614498
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Early ossification of capital femoral epiphyses, Short ribs, Foot polydactyly, ... OMIM:208500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Arrhythmia, Cardiomyopathy OMIM:609286
Mesomelia-Synostoses Syndrome
Distal femoral bowing, Short metatarsal, Tarsometatarsal synostosis, Carpometacarpal synostosis, ... OMIM:600383
Acrorenal-Mandibular Syndrome
Hand polydactyly, Hip dislocation, Missing ribs, Hypoplastic scapulae, Foot polydactyly, Microgna... OMIM:200980
Schneckenbecken Dysplasia
Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Hypoplastic vertebral bodies, Dumbb... ORPHA:3144
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Patellar dislocation, Carpal synostosis, Fibular aplasia, Broad thu... OMIM:274000
Campomelic Dysplasia
Hip dislocation, Hypoplastic inferior ilia, Bowing of the long bones, Micrognathia, Short long bo... ORPHA:140
Tetanus
Bradycardia, Hypertension, Tachycardia ORPHA:3299
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Preaxial foot polydactyly ORPHA:1827
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Aplasia/Hypoplasia of metatarsal bones, Hip dislocati... OMIM:276820
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper limb undergrowth, Micrognathi... OMIM:236680
Combined Oxidative Phosphorylation Defect Type 39
Ankle clonus, Prominent calcaneus, Bradycardia ORPHA:565624
Campomelic Dysplasia
Shortening of all phalanges of the toes, Hip dislocation, Shortening of all phalanges of fingers,... OMIM:114290
Mitochondrial Complex I Deficiency, Nuclear Type 37
Bradycardia, Pulmonary arterial hypertension OMIM:619272
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia OMIM:613327
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension ORPHA:391673
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology ORPHA:90673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy OMIM:618775
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Syncope ORPHA:221098
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hypertension, Talipes equinovarus, Bradycardia, Tachycardia, Retinal hemorrhage OMIM:614653
Proximal Spinal Muscular Atrophy
Hip dislocation, Distal lower limb muscle weakness, Absent patellar reflexes, Knee flexion contra... ORPHA:70
Otopalatodigital Syndrome, Type Ii
Short thumb, Short metatarsal, Rocker bottom foot, Toe syndactyly, Broad thumb, Short hallux, Rad... OMIM:304120
D-Glyceric Aciduria
Bradycardia OMIM:220120
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Dilated cardiomyopathy OMIM:610768
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Neuroleptic Malignant Syndrome
Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Bradycardia, Tachycardia, Hypertensive... ORPHA:94093
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the mandible, Finger syndactyly, Micro... ORPHA:2753
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology ORPHA:90674
Cranioectodermal Dysplasia 1
Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Flattened e... OMIM:218330
Lujo Hemorrhagic Fever
Myocarditis, Hypotension, Subconjunctival hemorrhage, Shock, Bradycardia ORPHA:319213
Crimean-Congo Hemorrhagic Fever
Myocarditis, Pulmonary arterial hypertension, Diffuse alveolar hemorrhage, Hypotension, Subdural ... ORPHA:99827
Encephalitis Lethargica
Bradycardia ORPHA:83600
Osteopathia Striata With Cranial Sclerosis
Osteopathia striata, Camptodactyly, Paranasal sinus hypoplasia, Flexion contracture of toe, Fibul... OMIM:300373
Charge Syndrome
Down-sloping shoulders, Hand polydactyly, Absent radius, Absent tibia, Bilateral talipes equinova... OMIM:214800
Sheehan Syndrome
Bradycardia, Palpitations, Orthostatic hypotension ORPHA:91355
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Short finger, Hand polydactyly, Abnormal epiphysis morphology, Delayed proximal femoral epiphysea... ORPHA:226307
Bohring-Opitz Syndrome
Bradycardia, Metacarpophalangeal joint contracture, Micrognathia ORPHA:97297
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Arachnodactyly, Pulmonary insufficiency, Micrognathia OMIM:614437
Marburg Hemorrhagic Fever
Hypotension, Capillary leak, Subconjunctival hemorrhage, Shock, Hypovolemia, Internal hemorrhage,... ORPHA:99826
Yellow Fever
Reduced left ventricular ejection fraction, Capillary leak, Supraventricular arrhythmia, Hemateme... ORPHA:99829
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy, Abnormal fingertip morphology ORPHA:79404
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248

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 Ubap2l

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 Ubap2l.

No publications found that use IMPC mice or data for Ubap2l.

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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
Ubap2lem1(IMPC)Bay Exon Deletion Mice
Ubap2ltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ubap2ltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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