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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 heart position or orientation Otub1tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal lung morphology Otub1tm1b(EUCOMM)Hmgu HET 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
preweaning lethality, complete penetrance Otub1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased grip strength Otub1tm1b(EUCOMM)Hmgu HET Early adult 2.20×10-06
increased cornea thickness Otub1tm1b(EUCOMM)Hmgu HET   Early adult 9.89×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 0.0%
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.

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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Embryo LacZ

LacZ images wholemount

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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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
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Dextrocardia OMIM:606217
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronch... OMIM:618254
Brittle Cornea Syndrome 1
Keratoconus, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Decreased corneal t... 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
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Bronchiectasis OMIM:614679
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Osteoporosis, Corneal scarring, Mitral valve prolapse, Kerato... ORPHA:90354
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tota... OMIM:614779
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis OMIM:611884
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inve... OMIM:208530
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Scimitar Syndrome
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm... ORPHA:185
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:617577
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Bronchiectasis OMIM:606763
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Cognitive impairment ORPHA:2863
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Astigmatism, Ventricular septal defect, Dextrocardia OMIM:618067
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism OMIM:108145
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... ORPHA:2257
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Dextrocardia
Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morphology, Abnormal... ORPHA:1666
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Attention deficit hyperactivity disorder ORPHA:401777
Alagille Syndrome
Keratoconus, Ventricular septal defect, Corneal dystrophy, Abnormal pupil morphology, Atrial sept... ORPHA:52
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Attention deficit hyperactivity disorder, Peters ano... OMIM:618929
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Craniosynostosis, Abnormal heart morphology, Abnormal aortic valve morphology, Atte... ORPHA:261197
Poland Syndrome
Dextrocardia OMIM:173800
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Cognitive impairment OMIM:615994
Heterotaxy, Visceral, 12, Autosomal
Atrial septal defect, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atr... OMIM:619702
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial ano... OMIM:608978
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Warburg-Cinotti Syndrome
Symblepharon, Pneumothorax, Osteolytic defects of the phalanges of the hand, Decreased corneal th... OMIM:618175
Costello Syndrome
Keratoconus, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... ORPHA:3071
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Patent foramen ovale ORPHA:542306
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Atrioventricular canal defect, Transposition of the great arteries, Pulmonary hypop... OMIM:314390
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dext... OMIM:306955
Arterial Tortuosity Syndrome
Keratoconus, Craniosynostosis, Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Ke... ORPHA:3342
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Corneal opacity, Abnorm... ORPHA:99776
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... OMIM:619657
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Keratoconus, Pulmonary artery stenosis, Astigmatism, Aortic valve stenosis OMIM:208050
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism, Ventricular septal defect,... OMIM:270100
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia OMIM:248700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Gapo Syndrome
Keratoconus, Decreased skull ossification ORPHA:2067
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Czeizel-Losonci Syndrome
Dextrocardia, Pulmonary hypoplasia ORPHA:2437
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Craniosynostosis ORPHA:96097
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Keratoconus, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repe... OMIM:130050
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol... OMIM:614294
8P Inverted Duplication/Deletion Syndrome
Tetralogy of Fallot, Dextrocardia, Attention deficit hyperactivity disorder, Abnormal heart morph... ORPHA:96092
Joubert Syndrome With Ocular Defect
Iris coloboma, Dextrocardia ORPHA:220493
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... OMIM:264480
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Keratoconus, Recurrent pneumonia, Osteoporosis, Microcornea OMIM:225400
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Pulmonary hypoplasia OMIM:313850
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Dextrocardia ORPHA:2315
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia OMIM:613686
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Dextrocardia OMIM:277380
Constricting Bands, Congenital
Ectopia cordis, Abnormal lung lobation OMIM:217100
Knobloch Syndrome
Cataract, Dextrocardia, Ectopia lentis ORPHA:1571
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... ORPHA:99125
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Bicuspid aortic valve, Dextrocardia, Osteoporosis, Microcornea ORPHA:536545
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal anatomic location of th... ORPHA:2461
Limb Body Wall Complex
Ventricular septal defect, Corneal opacity, Abnormal heart morphology, Lens subluxation, Atrial s... ORPHA:2369
Neurooculorenal Syndrome
Iris atrophy, Dextrocardia, Mitral valve prolapse, Tetralogy of Fallot with pulmonary stenosis, P... OMIM:620305
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Mi... OMIM:300166
Restrictive Dermopathy
Osteopenia, Dextrocardia, Transposition of the great arteries, Pulmonary hypoplasia, Atrial septa... ORPHA:1662
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Recurrent respiratory infections, Cor triatriatum, Ventricular septal defect, Dextroc... OMIM:619534
Floating-Harbor Syndrome
Short attention span, Abnormal anterior chamber morphology, Tetralogy of Fallot, Attention defici... ORPHA:2044
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca, Osteolysis, Depression ORPHA:285
Tetrasomy 9P
Pericarditis, Dextrocardia, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Abnormal mi... ORPHA:3310
Poland Syndrome
Atrial septal defect, Dextrocardia, Reduced bone mineral density ORPHA:2911
Carpenter Syndrome 2
Dextrocardia, Craniosynostosis, Situs inversus totalis, Transposition of the great arteries, Atri... OMIM:614976
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal heart valve morphology, Abnormal pupil morphology, Pneumothorax, Osteolysis... ORPHA:286
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia OMIM:616145
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, 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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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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