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Gene: Set MGI:1860267

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SET nuclear oncogene
Synonyms:
5730420M11Rik,  StF-IT-1,  2610030F17Rik

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Set 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 Set by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 58
OMIM:618106

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni... ORPHA:268810
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... ORPHA:1908
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Wildervanck Syndrome
Meningocele ORPHA:3456
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Triploidy
Polyhydramnios, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation ORPHA:3376
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Polyhydramnios, Spina bifida, Edema OMIM:616038
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Iniencephaly
Encephalocele, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal... ORPHA:63259
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele OMIM:614424
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Mosaic Trisomy 9
Spina bifida, Polyhydramnios, Hydrops fetalis, Intrauterine growth retardation, Oligohydramnios ORPHA:99776
Vacterl With Hydrocephalus
Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Intrauterine growth retardation ORPHA:3412
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema ORPHA:2874
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Occipital meningocele OMIM:616546
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida, Oligohydramnios OMIM:613776
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Trisomy 18
Spina bifida, Anencephaly, Holoprosencephaly, Intrauterine growth retardation, Oligohydramnios ORPHA:3380
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele OMIM:130720
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida, Polyhydramnios ORPHA:2671
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Hydrops fetalis ORPHA:2879
Neu-Laxova Syndrome 1
Hydranencephaly, Spina bifida, Polyhydramnios, Stillbirth, Short umbilical cord, Small placenta, ... OMIM:256520
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Nail-Patella Syndrome
Spina bifida OMIM:161200
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... ORPHA:573278
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida ORPHA:991
Focal Dermal Hypoplasia
Umbilical hernia, Spina bifida ORPHA:2092
Fibular Hemimelia
Spina bifida ORPHA:93323
22Q11.2 Deletion Syndrome
Spina bifida, Polyhydramnios, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical h... ORPHA:567
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Spina bifida, Edema of the dorsum of hands OMIM:274000
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Fanconi Anemia
Spina bifida, Hydrocephalus, Oligohydramnios, Umbilical hernia, Intrauterine growth retardation ORPHA:84
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Polyhydramnios, Spinal dysraphism OMIM:114290
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Jacobsen Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2308
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Spina bifida ORPHA:363958
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida, Polyhydramnios OMIM:180849
Aicardi Syndrome
Spina bifida OMIM:304050
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Arima Syndrome
Occipital meningocele OMIM:243910
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Patent urachus, Intrauterine growth retardation OMIM:192350
Marfan Syndrome
Meningocele ORPHA:558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Intellectual Developmental Disorder, Autosomal Dominant 58
OMIM:618106

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 Set

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 Set.

There are 39 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research. Molecular psychiatry (March 2023) Setd5tm1a(EUCOMM)Wtsi PMC10575785
Dominant role of DNA methylation over H3K9me3 for IAP silencing in endoderm. Nature communications (September 2022) Setdb1tm1a(EUCOMM)Wtsi PMC9485127
Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function. Human molecular genetics (September 2022) Setd1atm1a(EUCOMM)Wtsi PMC9476630
An in vitro model of neuronal ensembles. Nature communications (June 2022) Setd1atm1a(EUCOMM)Wtsi PMC9184643
Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes. Frontiers in genetics (January 2022) Setd5tm1a(EUCOMM)Wtsi PMC9846138
Coronavirus induces diabetic macrophage-mediated inflammation via SETDB2. Proceedings of the National Academy of Sciences of the United States of America (September 2021) Setdb2tm1c(KOMP)Wtsi 34479991
Deficiency of histone lysine methyltransferase SETDB2 in hematopoietic cells promotes vascular inflammation and accelerates atherosclerosis. JCI insight (June 2021) Setdb2tm1a(KOMP)Wtsi PMC8262461
Setd5 is required in cardiopharyngeal mesoderm for heart development and its haploinsufficiency is associated with outflow tract defects in mouse. Genesis (New York, N.Y. : 2000) (May 2021) Setd5tm1a(EUCOMM)Wtsi PMC8564859
SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation. Gut (June 2020) Setdb1tm1c(EUCOMM)Wtsi 32503845
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Setd1atm1.2(IMPC)Wtsi Setd1atm1b(EUCOMM)Wtsi Setd1btm1.2(IMPC)Wtsi Setd4tm1a(KOMP)Wtsi Setd5tm1a(EUCOMM)Wtsi PMC7263671
The Autism-Related Protein SETD5 Controls Neural Cell Proliferation through Epigenetic Regulation of rDNA Expression. iScience (April 2020) Setd5tm1a(EUCOMM)Wtsi PMC7160574
Deletion of Mouse Setd4 Promotes the Recovery of Hematopoietic Failure. International journal of radiation oncology, biology, physics (April 2020) Setd4tm1c(KOMP)Wtsi PMC7321877
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Setd5tm1a(EUCOMM)Wtsi PMC7338221
Loss of Setd4 delays radiation-induced thymic lymphoma in mice. DNA repair (November 2019) Setd4tm1c(KOMP)Wtsi Setd4tm1a(KOMP)Wtsi PMC6960333
Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice. Neuron (October 2019) Setd1atm1c(EUCOMM)Wtsi Setd1atm1a(EUCOMM)Wtsi 31606247
Enterovirus pathogenesis requires the host methyltransferase SETD3. Nature microbiology (September 2019) Setd3tm1(NCOM)Mfgc 31527793
SETD5 Regulates Chromatin Methylation State and Preserves Global Transcriptional Fidelity during Brain Development and Neuronal Wiring. Neuron (September 2019) Setd5tm1a(EUCOMM)Wtsi 31515109
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Setd1atm1a(EUCOMM)Wtsi Setd4tm1a(KOMP)Wtsi Setd5tm1a(EUCOMM)Wtsi Setdb1tm1a(EUCOMM)Wtsi Setmartm1a(EUCOMM)Wtsi PMC6671969
The novel methyltransferase SETD4 regulates TLR agonist-induced expression of cytokines through methylation of lysine 4 at histone 3 in macrophages. Molecular immunology (July 2019) Setd4tm1a(KOMP)Wtsi Setd4tm1b(KOMP)Wtsi 31376731
The Histone Methyltransferase Setdb2 Modulates Macrophage Phenotype and Uric Acid Production in Diabetic Wound Repair. Immunity (July 2019) Setdb2tm1c(KOMP)Wtsi 31350176
EHMT2 and SETDB1 protect the maternal pronucleus from 5mC oxidation. Proceedings of the National Academy of Sciences of the United States of America (May 2019) Setdb1tm1c(EUCOMM)Wtsi Setdb1tm1a(EUCOMM)Wtsi 31088968
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Setd1atm1a(EUCOMM)Wtsi Setd4tm1a(KOMP)Wtsi Setd5tm1a(EUCOMM)Wtsi Setdb1tm1a(EUCOMM)Wtsi Setmartm1a(EUCOMM)Wtsi PMC6459510
The Histone Methyltransferase SETDB1 Controls T Helper Cell Lineage Integrity by Repressing Endogenous Retroviruses. Immunity (February 2019) Setdb1tm1c(EUCOMM)Wtsi Setdb1tm1a(EUCOMM)Wtsi 30737147
SETD3 is an actin histidine methyltransferase that prevents primary dystocia. Nature (December 2018) Setd3tm1.1(NCOM)Mfgc 30626964
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Nature neuroscience (November 2018) Setd5tm1a(EUCOMM)Wtsi 30455454
A Non-catalytic Function of SETD1A Regulates Cyclin K and the DNA Damage Response. Cell (February 2018) Setd1atm1c(EUCOMM)Wtsi Setd1atm1a(EUCOMM)Wtsi 29474905
Generation and characterization of mice with mesenchyme-specific deletion of the entire ESET histone methyltransferase protein. Genesis (New York, N.Y. : 2000) (January 2018) Setdb1tm1c(EUCOMM)Wtsi Setdb1tm1a(EUCOMM)Wtsi 29282851
miR-126-5p promotes retinal endothelial cell survival through SetD5 regulation in neurons. Development (Cambridge, England) (January 2018) Setd5tm1a(EUCOMM)Wtsi 29180574
An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers. Nucleic acids research (December 2017) Setdb1tm1a(EUCOMM)Wtsi PMC5716182
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Setd1atm1b(EUCOMM)Wtsi Setd4tm1a(KOMP)Wtsi Setd5tm1a(EUCOMM)Wtsi PMC5827107
Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2. The Journal of experimental medicine (April 2017) Setd2tm1c(NCOM)Mfgc Setd2tm1a(NCOM)Mfgc PMC5413324
SETDB2 Links Glucocorticoid to Lipid Metabolism through Insig2a Regulation. Cell metabolism (August 2016) Setdb2tm1c(KOMP)Wtsi Setdb2tm1a(KOMP)Wtsi PMC5023502
Setd1a and NURF mediate chromatin dynamics and gene regulation during erythroid lineage commitment and differentiation. Nucleic acids research (May 2016) Setd1atm1c(EUCOMM)Wtsi Setd1atm1a(EUCOMM)Wtsi PMC5009724
Retrotransposon derepression leads to activation of the unfolded protein response and apoptosis in pro-B cells. Development (Cambridge, England) (March 2016) Setdb1tm1a(EUCOMM)Wtsi 27013243
H3K4 Methyltransferase Set1a Is A Key Oct4 Coactivator Essential for Generation of Oct4 Positive Inner Cell Mass. Stem cells (Dayton, Ohio) (January 2016) Setd1atm1a(EUCOMM)Wtsi 26785054
Type I Interferon Induced Epigenetic Regulation of Macrophages Suppresses Innate and Adaptive Immunity in Acute Respiratory Viral Infection. PLoS pathogens (December 2015) Setdb2tm1c(KOMP)Wtsi Setdb2tm1a(KOMP)Wtsi PMC4692439
Setd1a regulates progenitor B-cell-to-precursor B-cell development through histone H3 lysine 4 trimethylation and Ig heavy-chain rearrangement. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (December 2014) Setd1atm1c(EUCOMM)Wtsi Setd1atm1a(EUCOMM)Wtsi PMC4396605
The perfect host: a mouse host embryo facilitating more efficient germ line transmission of genetically modified embryonic stem cells. PloS one (July 2013) Setd6tm1(KOMP)Mbp PMC3699516
Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength. PLoS genetics (August 2012) Setdb1tm1a(EUCOMM)Wtsi PMC3410859

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MGI Allele Allele Type Produced
Settm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Settm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Settm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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