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Gene: Otulin MGI:3577015

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Gene Summary

Name:
OTU deubiquitinase with linear linkage specificity
Synonyms:
gumby,  Fam105b,  m3Sapc,  m7-1Sapc

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IMPC Data Collections

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
preweaning lethality, complete penetrance Otulinem1(IMPC)Bay HOM   Early adult 0.00
abnormal spleen morphology Otulinem1(IMPC)Bay HET Early adult 0.00
prenatal lethality prior to heart atrial septation Otulinem1(IMPC)Bay HOM   E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of right eye

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Otulin 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.

The table below shows human diseases associated to Otulin by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
OMIM:619986

The table below shows human diseases predicted to be associated to Otulin by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve OMIM:601369
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Arnold-Chiari Malformation Type I
Stiff neck, Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Ab... ORPHA:268882
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly ORPHA:1296
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Verheij Syndrome
Branchial cyst, Optic nerve hypoplasia, Microcephaly, Short neck, Cerebral atrophy, Short 5th fin... OMIM:615583
X-Linked Mandibulofacial Dysostosis
Microcephaly, Micrognathia, Branchial anomaly, Hypoplasia of the zygomatic bone, Webbed neck, Abn... ORPHA:1131
Superficial Siderosis
Abnormality of the brachial nerve plexus, Dysgyria, Abnormality of the vestibulocochlear nerve, A... ORPHA:247245
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Mandibular prognathia, Branchial cyst, Pulmonary artery stenosis, Microcephaly ORPHA:435938
Branchiogenic-Deafness Syndrome
Branchial fistula, Trismus, Branchial cyst, Short distal phalanx of finger OMIM:609166
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Branchiootic Syndrome
Branchial fistula, Facial palsy, Micrognathia ORPHA:52429
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Microcephaly, Increased nuchal translucency, Gray matter heterotopia, Branchial anomaly, Ascendin... ORPHA:453499
Holoprosencephaly
Encephalocele, Microcephaly, Short neck, Abnormality of the spleen, Optic atrophy, Abnormality of... ORPHA:2162
Bor Syndrome
Branchial cyst, Retrognathia, Facial palsy ORPHA:107
Branchiootic Syndrome 1
Branchial fistula, Retrognathia OMIM:602588
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Branchial fistula, Microcephaly, Micrognathia, Patent ductus arteriosus, O... ORPHA:261337
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Abnormal cerebral morphology, Facial palsy OMIM:113650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Microcephaly, Increased nuchal translucency, Dental malocclusion, Gray ma... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Microcephaly, Increased nuchal translucency, Dental malocclusion, Gray ma... ORPHA:352665
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Coarctation of aorta, ... ORPHA:42775
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Microcephaly, Aortic aneurysm, Short palm, Malar flattening, Truncus arteriosu... ORPHA:261330
Oligomeganephronia
Branchial cyst, Optic disc coloboma, Micrognathia ORPHA:2260
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... ORPHA:861
8Q24.3 Microdeletion Syndrome
Microretrognathia, Branchial cyst, Short femur, Optic nerve hypoplasia, Short hallux, Micromelia,... ORPHA:508488
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Aortic dissection, Ane... OMIM:175050
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Aplasia of the thymus, Facial palsy, Micrognathia, Carious teeth, Op... OMIM:620186
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly, Short palm ORPHA:466950
Leprosy
Abnormality of the spleen, Abnormality of the seventh cranial nerve, Abnormal facial skeleton mor... ORPHA:548
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Facial palsy, Micrognathia, Microcephaly, Short thumb, Short neck,... OMIM:113620
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Coarc... OMIM:164210
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma OMIM:162260
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Short metacarpal, Cerebral arteriovenous malformation, Micrognathia, Cario... OMIM:150230
Witteveen-Kolk Syndrome
Microretrognathia, Branchial fistula, Microcephaly, Short thumb, Dysplastic corpus callosum, Cort... OMIM:613406
Parkes Weber Syndrome
Myelopathy, Cerebral arteriovenous malformation ORPHA:90307
Capillary Malformation-Arteriovenous Malformation
Cerebral arteriovenous malformation ORPHA:137667
Telangiectasia, Hereditary Hemorrhagic, Type 4
Pulmonary arteriovenous malformation, Ischemic stroke, Cerebral arteriovenous malformation OMIM:610655
Juvenile Polyposis Syndrome
Anemia, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Macrocephaly ORPHA:2929
Telangiectasia, Hereditary Hemorrhagic, Type 2
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Ischemic stroke, Polyc... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Ischemic stroke, Polyc... OMIM:187300
Costello Syndrome
Redundant neck skin, Micrognathia, Short neck, Cerebral atrophy, Webbed neck, Vestibular schwanno... OMIM:218040
Legius Syndrome
Vestibular schwannoma, Neurofibroma, Acute monocytic leukemia, Macrocephaly ORPHA:137605
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
OMIM:619986

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 Otulin

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 Otulin.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Myeloid OTULIN deficiency couples RIPK3-dependent cell death to Nlrp3 inflammasome activation and IL-1β secretion. Science immunology (November 2023) Otulintm1c(EUCOMM)Hmgu 38000038
An interaction between OTULIN and SCRIB uncovers roles for linear ubiquitination in planar cell polarity. Disease models & mechanisms (August 2023) Otulintm2e(EUCOMM)Hmgu PMC10445738
OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity. Nature communications (October 2021) Otulintm1a(EUCOMM)Hmgu PMC8501048
OTULIN protects the liver against cell death, inflammation, fibrosis, and cancer. Cell death and differentiation (March 2020) Otulintm1c(EUCOMM)Hmgu Otulintm1a(EUCOMM)Hmgu PMC7206033
OTULIN Prevents Liver Inflammation and Hepatocellular Carcinoma by Inhibiting FADD- and RIPK1 Kinase-Mediated Hepatocyte Apoptosis. Cell reports (February 2020) Otulintm1c(EUCOMM)Hmgu Otulintm1a(EUCOMM)Hmgu 32075762
The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity. Cell (August 2016) Otulintm1a(EUCOMM)Hmgu PMC5002269

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MGI Allele Allele Type Produced
Otulinem1(IMPC)Bay Exon Deletion Mice
Otulintm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Otulintm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Otulinem1H Point Mutation Mice
Otulintm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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