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Gene: Otub1 MGI:2147616

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Gene Summary

Name:
OTU domain, ubiquitin aldehyde binding 1
Synonyms:
N/A

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 heart position or orientation Otub1tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal cranium morphology Otub1tm1b(EUCOMM)Hmgu HET   Early adult 7.96×10-05
decreased exploration in new environment Otub1tm1b(EUCOMM)Hmgu HET Early adult 7.17×10-14
abnormal lung morphology Otub1tm1b(EUCOMM)Hmgu HET Early adult 0.00
decreased bone mineral content Otub1tm1b(EUCOMM)Hmgu HET Early adult 5.73×10-06
preweaning lethality, complete penetrance Otub1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased cornea thickness Otub1tm1b(EUCOMM)Hmgu HET   Early adult 9.89×10-05
decreased grip strength Otub1tm1b(EUCOMM)Hmgu HET Early adult 2.20×10-06

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)
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 Ambiguous
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Eye  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)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 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 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 0.0% (0 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas 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)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine 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)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 3)
Brain N/A homozygote 75% (3 of 4)
Ear N/A heterozygote 33.33% (1 of 3)
Ear N/A homozygote 50% (2 of 4)
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (4 of 4)
Eye N/A heterozygote 100% (3 of 3)
Eye N/A homozygote 100% (4 of 4)
Footplate N/A heterozygote 0.0% (0 of 3)
Footplate N/A homozygote 50% (2 of 4)
Forebrain N/A heterozygote 33.33% (1 of 3)
Forebrain N/A homozygote 100% (4 of 4)
Forelimb N/A heterozygote 33.33% (1 of 3)
Forelimb N/A homozygote 100% (4 of 4)
Handplate N/A heterozygote 0.0% (0 of 3)
Handplate N/A homozygote 50% (2 of 4)
Head N/A heterozygote 100% (3 of 3)
Head N/A homozygote 100% (4 of 4)
Heart N/A heterozygote 33.33% (1 of 3)
Heart N/A homozygote 50% (2 of 4)
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A homozygote 25% (1 of 4)
Hindlimb N/A heterozygote 33.33% (1 of 3)
Hindlimb N/A homozygote 100% (4 of 4)
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote 25% (1 of 4)
Lung N/A heterozygote 33.33% (1 of 3)
Lung N/A homozygote 50% (2 of 4)
Mandibular process N/A heterozygote 33.33% (1 of 3)
Mandibular process N/A homozygote 50% (2 of 4)
Maxillary process N/A heterozygote 33.33% (1 of 3)
Maxillary process N/A homozygote 50% (2 of 4)
Midbrain N/A heterozygote 0.0% (0 of 3)
Midbrain N/A homozygote 25% (1 of 4)
Oral cavity N/A heterozygote 33.33% (1 of 3)
Oral cavity N/A homozygote 50% (2 of 4)
Chorioallantoic placenta N/A heterozygote 100% (1 of 1)
Chorioallantoic placenta N/A homozygote 100% (1 of 1)
Skin N/A heterozygote 33.33% (1 of 3)
Skin N/A homozygote 50% (2 of 4)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail somite N/A homozygote 25% (1 of 4)
Tail N/A heterozygote 0.0% (0 of 3)
Tail N/A homozygote 75% (3 of 4)

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%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Embryo LacZ

LacZ images wholemount

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

20 Images

View images
Echo

M-Mode Images

31 Images

View images
Adult LacZ

LacZ Images Wholemount

15 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

20 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Otub1 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 Otub1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Pulmonary artery atresia, Atrioventricular canal defect OMIM:606217
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Keratoconus, Mitral valve ... OMIM:229200
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent... OMIM:615482
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent respiratory ... OMIM:615067
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:611884
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Osteoporosis, Decreased corneal thickness, Mit... ORPHA:90354
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent respiratory i... OMIM:616037
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:614679
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:618063
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:617577
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Re... OMIM:615444
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... OMIM:616749
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Left atrial isom... OMIM:605376
Scimitar Syndrome
Bronchogenic cyst, Truncus arteriosus, Tetralogy of Fallot, Pulmonary artery hypoplasia, Tricuspi... ORPHA:185
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:606763
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cognitive impairment, Dextrocardia ORPHA:2863
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology ORPHA:1759
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Situs inversus totalis OMIM:613686
Primary Pulmonary Hypoplasia
Dextrocardia, Recurrent respiratory infections, Pneumothorax, Secundum atrial septal defect, Abno... ORPHA:2257
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Anxiety, Dextrocardia, Peters anomaly, Atrioventricular canal defect OMIM:618929
Dextrocardia
Dextrocardia, Situs inversus totalis, Abnormal heart morphology, Abnormality of the pulmonary art... ORPHA:1666
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
Bardet-Biedl Syndrome 17
Cognitive impairment, Dextrocardia, Situs inversus totalis OMIM:615994
Poland Syndrome
Dextrocardia OMIM:173800
Heterotaxy, Visceral, 12, Autosomal
Complete atrioventricular canal defect, Patent foramen ovale, Atrial septal defect, Dextrotranspo... OMIM:619702
Meacham Syndrome
Tetralogy of Fallot, Atrial septal defect, Scimitar anomaly, Partial anomalous pulmonary venous r... OMIM:608978
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:619607
Alagille Syndrome
Corneal dystrophy, Atrial septal defect, Peripheral pulmonary artery stenosis, Abnormal pupil mor... ORPHA:52
Cardiac Diverticulum
Tetralogy of Fallot, Aortic valve stenosis, Patent foramen ovale, Pulmonary artery hypoplasia, Tr... ORPHA:1686
Warburg-Cinotti Syndrome
Symblepharon, Decreased corneal thickness, Osteolytic defects of the phalanges of the hand, Pneum... OMIM:618175
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis OMIM:613095
Costello Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Keratoconus, Mitral va... ORPHA:3071
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Mosaic Trisomy 9
Abnormal heart valve morphology, Endocardial fibroelastosis, Atrial septal defect, Corneal opacit... ORPHA:99776
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Dextrocardia, Single ventricle, Ventricular se... ORPHA:216694
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Dextrotransposition of the great arteries, Unbalanced atrioventricular cana... OMIM:619657
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Anxiety, Astigmatism, Aggressive behavior, Iris hypopigm... ORPHA:72
Arterial Tortuosity Syndrome
Keratoconus, Aortic valve stenosis, Pulmonary artery stenosis, Ventricular hypertrophy OMIM:208050
Heterotaxy, Visceral, 1, X-Linked
Right atrial isomerism, Complete atrioventricular canal defect, Bilateral trilobed lungs, Total a... OMIM:306955
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Patent foramen ovale ORPHA:542306
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Atrial septal defect, Dextrocardia, Abnormal aortic valve morphology, Abnormal ... ORPHA:261197
Arterial Tortuosity Syndrome
Abnormal myocardium morphology, Dilated cardiomyopathy, Craniosynostosis, Keratoglobus, Hypertrop... ORPHA:3342
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia OMIM:248700
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Atrial septal defect, Dysplastic tricuspid valve, Scimitar anomaly, Dextroca... OMIM:618280
Ellis Van Creveld Syndrome
Emphysema, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lungs, Atrial septal defect... ORPHA:289
Nail-Patella Syndrome
Microcornea, Cataract, Antecubital pterygium, Lester's sign, Keratoconus, Microphakia OMIM:161200
Distal Trisomy 5Q
Craniosynostosis, Dextrocardia, Ventricular septal defect ORPHA:96097
Gapo Syndrome
Keratoconus, Decreased skull ossification ORPHA:2067
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca... ORPHA:2363
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Bilateral trilobed lungs, Total anomalous pulmonary venous return, Double... OMIM:270100
Czeizel-Losonci Syndrome
Dextrocardia, Pulmonary hypoplasia ORPHA:2437
Ehlers-Danlos Syndrome, Vascular Type
Emphysema, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Pulmonary bleb, Kera... OMIM:130050
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Tricuspid atresia, Atrial septal defect, Dextrocardia, Ve... OMIM:264480
Joubert Syndrome With Ocular Defect
Dextrocardia, Iris coloboma ORPHA:220493
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Recurrent pneumonia, Osteopenia, Microcornea, Osteoporosis, Keratoconus OMIM:225400
Thoracoabdominal Syndrome
Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries OMIM:313850
Johanson-Blizzard Syndrome
Dextrocardia, Abnormal cardiac septum morphology ORPHA:2315
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Dextrocardia ORPHA:96092
Knobloch Syndrome
Cataract, Ectopia lentis, Dextrocardia ORPHA:1571
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Microcornea, Osteoporosis, Dextrocardia, Bicuspid aortic valve ORPHA:536545
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Atrial septal defect, Mixed total anoma... ORPHA:99125
Constricting Bands, Congenital
Abnormal lung lobation, Ectopia cordis OMIM:217100
Gapo Syndrome
Keratoconus OMIM:230740
Limb Body Wall Complex
Ectopia cordis, Atrial septal defect, Corneal opacity, Lens subluxation, Abnormal heart morpholog... ORPHA:2369
Microphthalmia, Syndromic 2
Developmental cataract, Aortic valve stenosis, Atrial septal defect, Microcornea, Dextrocardia, D... OMIM:300166
Marden-Walker Syndrome
Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Ventricular septal... ORPHA:2461
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Patent foramen ovale, Atrioventricular canal defect, Unbalanced atrioventricular cana... OMIM:619534
Floating-Harbor Syndrome
Atrial septal defect, Cognitive impairment, Mesocardia OMIM:136140
Restrictive Dermopathy
Osteopenia, Atrial septal defect, Dextrocardia, Decreased skull ossification, Transposition of th... ORPHA:1662
Floating-Harbor Syndrome
Tetralogy of Fallot, Abnormal anterior chamber morphology, Mesocardia, Atrial septal defect, Anxi... ORPHA:2044
Poland Syndrome
Reduced bone mineral density, Atrial septal defect, Dextrocardia ORPHA:2911
Carpenter Syndrome 2
Craniosynostosis, Atrial septal defect, Dextrocardia, Situs inversus totalis, Transposition of th... OMIM:614976
Tetrasomy 9P
Patent foramen ovale, Abnormal mitral valve morphology, Dextrocardia, Pericarditis, Pulmonary hyp... ORPHA:3310
Vascular Ehlers-Danlos Syndrome
Cognitive impairment, Abnormal heart valve morphology, Pulmonary artery aneurysm, Abnormal pupil ... ORPHA:286
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Osteolysis, Keratoconjunctivitis sicca ORPHA:285

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 Otub1

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 Otub1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Deubiquitinase OTUB1 Is a Key Regulator of Energy Metabolism. International journal of molecular sciences (January 2022) Otub1tm1a(EUCOMM)Hmgu PMC8836018
OTUB1 regulates lung development, adult lung tissue homeostasis, and respiratory control. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (December 2021) Otub1tm1a(EUCOMM)Hmgu Otub1tm1b(EUCOMM)Hmgu 34793600
The deubiquitinase Otub1 controls the activation of CD8+ T cells and NK cells by regulating IL-15-mediated priming. Nature immunology (June 2019) Otub1tm1a(EUCOMM)Hmgu PMC6588407
Preventing abnormal NF-κB activation and autoimmunity by Otub1-mediated p100 stabilization. Cell research (May 2019) Otub1tm1a(EUCOMM)Hmgu 31086255

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MGI Allele Allele Type Produced
Otub1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Otub1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Otub1tm83433(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Otub1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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