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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
decreased bone mineral content Otub1tm1b(EUCOMM)Hmgu HET Early adult 5.73×10-06
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 grip strength Otub1tm1b(EUCOMM)Hmgu HET Early adult 2.20×10-06
abnormal heart position or orientation Otub1tm1b(EUCOMM)Hmgu HET Early adult 0.00
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
decreased exploration in new environment Otub1tm1b(EUCOMM)Hmgu HET Early adult 5.95×10-14

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
placenta 16.67% (7 of 42)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Lateral Orientation

20 Images

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Echo

M-Mode Images

31 Images

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Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

15 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

20 Images

View images
Embryo LacZ

LacZ images wholemount

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
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... OMIM:614170
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Dextrocardia OMIM:606217
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Brittle Cornea Syndrome 1
Keratoglobus, Mitral valve prolapse, Abnormal cornea morphology, Decreased corneal thickness, Ker... OMIM:229200
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Situs inversus totalis, Dextrocardia, R... OMIM:615067
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Eye poking OMIM:204100
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Leber Congenital Amaurosis 1
Cataract, Keratoconus, Eye poking OMIM:204000
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Bronchiectasis OMIM:614679
Ciliary Dyskinesia, Primary, 25
Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Dextrocardia, Situs... OMIM:615482
Brittle Cornea Syndrome
Keratoglobus, Corneal erosion, Corneal scarring, Mitral valve prolapse, Osteoporosis, Decreased c... ORPHA:90354
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:611884
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Abnormal lung lobation, Atrial ... OMIM:208530
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Eye poking OMIM:613835
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Ventricular septal defect, Bronchiectasis, Situs inversus totalis, Dextrocard... OMIM:616037
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Dermatitis, Atopic
Conjunctivitis, Cataract, Keratoconus OMIM:603165
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:617577
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Situs inversus totalis, Re... OMIM:615444
Scimitar Syndrome
Double outlet right ventricle, Mitral atresia, Pulmonary sequestration, Pneumothorax, Truncus art... ORPHA:185
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, De... OMIM:613751
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Cognitive impairment ORPHA:2863
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Bronchiectasis OMIM:606763
Retinitis Pigmentosa
Cataract, Keratoconus ORPHA:791
Developmental And Epileptic Encephalopathy 66
Astigmatism, Dextrocardia, Ventricular septal defect, Atrial septal defect OMIM:618067
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus OMIM:108145
Leber Congenital Amaurosis 9
Keratoconus, Eye poking OMIM:608553
Primary Pulmonary Hypoplasia
Pneumothorax, Secundum atrial septal defect, Pulmonary hypoplasia, Dextrocardia, Recurrent respir... ORPHA:2257
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Mesocardia, ... OMIM:605376
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
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Self-injurious behavior, Dextrocardia, Peters anomaly, Anxiety OMIM:618929
Dextrocardia
Abnormal pulmonary situs morphology, Abnormal lung lobation, Abnormality of the pulmonary artery,... ORPHA:1666
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Cognitive impairment OMIM:615994
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Ventricular septal defect, Bicuspid aortic v... OMIM:608978
Poland Syndrome
Dextrocardia OMIM:173800
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Congenitally corrected transposition of the ... OMIM:619702
Alagille Syndrome
Abnormal pupil morphology, Ventricular septal defect, Atrial septal defect, Peripheral pulmonary ... ORPHA:52
Warburg-Cinotti Syndrome
Osteolytic defects of the phalanges of the hand, Pneumothorax, Limbal stem cell deficiency, Corne... OMIM:618175
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
Cardiac Diverticulum
Endocarditis, Patent foramen ovale, Congenital defect of the pericardium, Ventricular septal defe... ORPHA:1686
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, Keratoconus, Pulmo... ORPHA:3071
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Dextrocardia, Transposition of the great arteries, Pulmonary hypop... OMIM:314390
Congenitally Corrected Transposition Of The Great Arteries
Abnormal left ventricular outflow tract morphology, Ambiguous atrioventricular connection, Double... ORPHA:216694
Angelman Syndrome
Aggressive behavior, Self-injurious behavior, Iris hypopigmentation, Happy demeanor, Astigmatism,... ORPHA:72
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Atrioventricular canal defect, Right atrial isomerism, Subvalvular aorti... OMIM:306955
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:619657
Mosaic Trisomy 9
Ventricular septal defect, Abnormal lung lobation, Atrial septal defect, Dextrocardia, Corneal op... ORPHA:99776
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Arterial Tortuosity Syndrome
Keratoglobus, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Ker... ORPHA:3342
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Keratoconus ORPHA:542306
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Proximal 16P11.2 Microdeletion Syndrome
Abnormal aortic valve morphology, Atrial septal defect, Dextrocardia, Abnormal heart morphology, ... ORPHA:261197
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Atrioventricular canal defect, Right atrial isomerism, Double outlet rig... OMIM:270100
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Astigmatism, Pulmonary artery stenosis, Aortic valve stenosis, Keratoconus OMIM:208050
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia OMIM:248700
Nail-Patella Syndrome
Lester's sign, Microcornea, Antecubital pterygium, Cataract, Keratoconus, Microphakia OMIM:161200
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Atrial... ORPHA:289
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Keratoconus OMIM:242150
Gapo Syndrome
Keratoconus, Decreased skull ossification ORPHA:2067
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... OMIM:618280
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Corneal neovascula... ORPHA:2363
Czeizel-Losonci Syndrome
Dextrocardia, Pulmonary hypoplasia ORPHA:2437
Distal Trisomy 5Q
Dextrocardia, Craniosynostosis, Ventricular septal defect ORPHA:96097
Joubert Syndrome With Ocular Defect
Iris coloboma, Dextrocardia ORPHA:220493
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Pneumothorax, Pulmonary ble... OMIM:130050
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Atrial septal defect, Dextrocardia, Complete atrioventricular canal de... OMIM:264480
Thoracoabdominal Syndrome
Transposition of the great arteries, Ectopia cordis, Pulmonary hypoplasia OMIM:313850
Johanson-Blizzard Syndrome
Dextrocardia, Abnormal cardiac septum morphology ORPHA:2315
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Recurrent pneumonia, Osteopenia, Keratoconus, Osteoporosis OMIM:225400
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia OMIM:613686
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Tetralogy of Fallot, Abnormal heart morphology ORPHA:96092
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula OMIM:614294
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Dextrocardia, Atrial septal defect OMIM:277380
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Constricting Bands, Congenital
Abnormal lung lobation, Ectopia cordis OMIM:217100
Knobloch Syndrome
Cataract, Dextrocardia, Ectopia lentis ORPHA:1571
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Cardiac total anomalous pulmonary venous connectio... ORPHA:99125
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Microcornea, Dextrocardia, Osteopenia, Osteoporosis ORPHA:536545
Limb Body Wall Complex
Ventricular septal defect, Ectopia cordis, Atrial septal defect, Iris coloboma, Lens subluxation,... ORPHA:2369
Microphthalmia, Syndromic 2
Double outlet right ventricle, Ventricular septal defect, Mitral valve prolapse, Atrial septal de... OMIM:300166
Marden-Walker Syndrome
Situs inversus totalis, Dextrocardia, Ventricular septal defect, Abnormal anatomic location of th... ORPHA:2461
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Patent foramen ovale, Unbalanced atrioventricular canal defect, Ve... OMIM:619534
Restrictive Dermopathy
Pulmonary hypoplasia, Atrial septal defect, Dextrocardia, Decreased skull ossification, Osteopeni... ORPHA:1662
Floating-Harbor Syndrome
Aggressive behavior, Atrial septal defect, Mesocardia, Anxiety, Tetralogy of Fallot, Abnormal ant... ORPHA:2044
Poland Syndrome
Dextrocardia, Atrial septal defect, Reduced bone mineral density ORPHA:2911
Tetrasomy 9P
Patent foramen ovale, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Pulmo... ORPHA:3310
Carpenter Syndrome 2
Craniosynostosis, Atrial septal defect, Situs inversus totalis, Dextrocardia, Transposition of th... OMIM:614976
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Floating-Harbor Syndrome
Mesocardia, Ivory epiphyses of the distal phalanges of the hand, Aggressive behavior, Atrial sept... OMIM:136140
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Pulmonary artery aneurysm, Cognitive impairment, Pneumothorax, Mitral ... ORPHA:286
Hypermobile Ehlers-Danlos Syndrome
Osteolysis, Keratoconjunctivitis sicca, Keratoconus 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
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
Otub1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Otub1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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