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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
decreased bone mineral content Otub1tm1b(EUCOMM)Hmgu HET Early adult 5.73×10-06
decreased grip strength Otub1tm1b(EUCOMM)Hmgu HET Early adult 2.20×10-06
abnormal lung morphology Otub1tm1b(EUCOMM)Hmgu HET Early adult 0.00
increased cornea thickness Otub1tm1b(EUCOMM)Hmgu HET   Early adult 9.89×10-05
decreased exploration in new environment Otub1tm1b(EUCOMM)Hmgu HET Early adult 8.31×10-14
preweaning lethality, complete penetrance Otub1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal cranium morphology Otub1tm1b(EUCOMM)Hmgu HET   Early adult 7.95×10-05

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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Ambiguous
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 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)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 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)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
placenta Ambiguous
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Whole Body Dorso Ventral

20 Images

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Echo

M-Mode Images

31 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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Adult LacZ

LacZ Images Wholemount

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Embryo LacZ

LacZ images wholemount

10 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

2 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
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia OMIM:606217
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Mitral valve prolapse, Decreased corneal thickness, Kera... 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
Cataract, Keratoconus OMIM:613829
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Dextrocardi... OMIM:615482
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Brittle Cornea Syndrome
Corneal scarring, Mitral valve prolapse, Pulmonic stenosis, Decreased corneal thickness, Osteopor... ORPHA:90354
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Right Atrial Isomerism
Common atrium, Total anomalous pulmonary venous return, Abnormal lung lobation, Tetralogy of Fall... OMIM:208530
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections, Dextrocardia OMIM:106700
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Heterotaxy, Visceral, 7, Autosomal
Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Mitral atres... OMIM:616749
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Dextrocardia, Recurrent respirat... OMIM:615444
Scimitar Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Bronchogenic cyst, Abnormal heart morphology... ORPHA:185
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:617577
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotran... OMIM:613751
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus OMIM:244600
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... OMIM:617205
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:606763
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cognitive impairment, Dextrocardia ORPHA:2863
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Greig Cephalopolysyndactyly Syndrome
Abnormal heart morphology, Keratoconus, Craniosynostosis, Atrial septal defect OMIM:175700
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Astigmatism, Dextrocardia, Ventricular septal defect OMIM:618067
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... OMIM:615067
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Heterotaxy, Visceral, 2, Autosomal
Left atrial isomerism, Atrioventricular canal defect, Situs inversus totalis, Mesocardia, Transpo... OMIM:605376
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Dextrocardia
Abnormal lung lobation, Abnormal heart morphology, Situs inversus totalis, Abnormality of the pul... ORPHA:1666
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Attention deficit hyperactivity disorder ORPHA:401777
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
Alagille Syndrome
Keratoconus, Peripheral pulmonary artery stenosis, Abnormal pupil morphology, Ventricular septal ... ORPHA:52
Proximal 16P11.2 Microdeletion Syndrome
Abnormal heart morphology, Abnormal aortic valve morphology, Attention deficit hyperactivity diso... ORPHA:261197
Cardiac Diverticulum
Aortic valve stenosis, Pulmonary artery hypoplasia, Congenital defect of the pericardium, Abnorma... ORPHA:1686
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Congenital alveolar dysplasia, Scimitar anomaly, Ven... OMIM:608978
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Attention deficit hyperactivity disorder, Peters anomaly, Dextroca... OMIM:618929
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Common atrium, Double inlet right ventricle, Dextrotransposition of the g... OMIM:619702
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Osteolytic defects of the ... OMIM:618175
Poland Syndrome
Dextrocardia OMIM:173800
Bardet-Biedl Syndrome 17
Situs inversus totalis, Cognitive impairment, Dextrocardia OMIM:615994
Costello Syndrome
Keratoconus, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Pulmo... ORPHA:3071
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Patent foramen ovale ORPHA:542306
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Common atrium, Total anomalous pulmonary venous return, Mitral atresia, A... OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Pulmonary hypop... OMIM:314390
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Arterial Tortuosity Syndrome
Keratoconus, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Abno... ORPHA:3342
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular ... ORPHA:99776
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Arterial Tortuosity Syndrome
Aortic valve stenosis, Keratoconus, Ventricular hypertrophy, Astigmatism, Pulmonary artery stenosis OMIM:208050
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia OMIM:248700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Keratoconus OMIM:242150
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Ellis Van Creveld Syndrome
Emphysema, Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis... ORPHA:289
Gapo Syndrome
Keratoconus, Decreased skull ossification ORPHA:2067
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Foot acroosteolysis, Emphysem... OMIM:130050
Czeizel-Losonci Syndrome
Dextrocardia, Pulmonary hypoplasia ORPHA:2437
Distal Duplication 5Q
Craniosynostosis, Dextrocardia, Ventricular septal defect ORPHA:96097
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Lacrimoauriculodentodigital Syndrome
Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun... ORPHA:2363
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Astigmatism ORPHA:72
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Ventricular septal defect, Attention deficit hyperactivity disorder, Abn... OMIM:614294
Down Syndrome
Keratoconus, Cataract, Secundum atrial septal defect, Tetralogy of Fallot, Atrioventricular canal... ORPHA:870
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, Attention deficit hyperactivity disorder, Tetralogy of Fallot, Dextroc... ORPHA:96092
Joubert Syndrome With Ocular Defect
Iris coloboma, Dextrocardia ORPHA:220493
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextroca... OMIM:264480
Thoracoabdominal Syndrome
Transposition of the great arteries, Ectopia cordis, Pulmonary hypoplasia OMIM:313850
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia OMIM:613686
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Recurrent pneumonia, Osteopenia, Microcornea, Osteoporosis OMIM:225400
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Dextrocardia ORPHA:2315
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract ORPHA:791
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Dextrocardia OMIM:277380
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Constricting Bands, Congenital
Ectopia cordis, Abnormal lung lobation OMIM:217100
Knobloch Syndrome
Cataract, Ectopia lentis, Dextrocardia ORPHA:1571
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Microcornea, Bicuspid aortic valve, Dextrocardia, Osteoporosis ORPHA:536545
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Attention deficit hyperactivity disorder, Abno... ORPHA:2461
Limb Body Wall Complex
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Ectopia cordis, Corne... ORPHA:2369
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Iris at... OMIM:620305
Microphthalmia, Syndromic 2
Aortic valve stenosis, Microcornea, Mitral valve prolapse, Ventricular septal defect, Double outl... OMIM:300166
Restrictive Dermopathy
Osteopenia, Decreased skull ossification, Transposition of the great arteries, Atrial septal defe... ORPHA:1662
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cor triatriatum, Common atrium, Unbalanced atrioventricular canal defect, Osteopenia, Pulmonary a... OMIM:619534
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Depression, Mitral valve prolapse, Keratoconjunctivitis sicca, Osteolysis ORPHA:285
Floating-Harbor Syndrome
Tetralogy of Fallot, Short attention span, Mesocardia, Attention deficit hyperactivity disorder, ... ORPHA:2044
Tetrasomy 9P
Pulmonary hypoplasia, Abnormal mitral valve morphology, Patent foramen ovale, Dextrocardia, Abnor... ORPHA:3310
Poland Syndrome
Reduced bone mineral density, Atrial septal defect, Dextrocardia ORPHA:2911
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, Dextrocardia, ... OMIM:614976
Vascular Ehlers-Danlos Syndrome
Keratoconus, Pulmonary artery aneurysm, Abnormal heart valve morphology, Abnormal pupil morpholog... ORPHA:286
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Floating-Harbor Syndrome
Mesocardia, Atrial septal defect, Ivory epiphyses of the distal phalanges of the hand OMIM:136140

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

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