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Gene: Setdb1 MGI:1934229

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Gene Summary

Name:
SET domain, bifurcated 1
Synonyms:
KMT1E,  ESET

Order Alleles

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
increased CD4-positive, alpha-beta T cell number Setdb1tm1a(EUCOMM)Wtsi HET Early adult 6.09×10-07
preweaning lethality, complete penetrance Setdb1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased bone mineral density Setdb1tm1a(EUCOMM)Wtsi HET Early adult 3.72×10-05
increased startle reflex Setdb1tm1a(EUCOMM)Wtsi HET Early adult 1.28×10-13

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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 Not available
Blood vessel 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 Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 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 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote Ambiguous
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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%
blood vessel
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%
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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
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%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

12 Images

View images
Legacy Phenotype Associated Images
Setdb1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Setdb1tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Setdb1tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Setdb1tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Setdb1tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI

View all 109 images

Setdb1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Setdb1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Setdb1 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 Setdb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia OMIM:620366
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... OMIM:259700
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, Osteopetrosis, Dystonia, Th... ORPHA:3240
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Autoimmune Hypoparathyroidism
Increased bone mineral density, Laryngeal dystonia ORPHA:36913
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis OMIM:239000
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Laryngeal dystonia, D... ORPHA:94089
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
12Q14 Microdeletion Syndrome
Tremor, Abnormality of the spleen, Osteopoikilosis ORPHA:94063
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... ORPHA:33364
Desmosterolosis
Splenomegaly, Increased bone mineral density, Osteopetrosis ORPHA:35107
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Thrombocytosis, Polycyth... ORPHA:2905
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi... ORPHA:355
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... ORPHA:89936
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Reduced bone mineral density, Choreoathetosis, Hyperostosis front... ORPHA:79443
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... ORPHA:90652
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... OMIM:617301
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia ORPHA:35687
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Laryngeal dystonia ORPHA:79444
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones, Anemia OMIM:127000
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Exaggerated startle response OMIM:616881
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Exaggerated startle response OMIM:617864
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Osteop... ORPHA:667
Tay-Sachs Disease
Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Limited knee extension, Laryn... ORPHA:845
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... ORPHA:79474
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia OMIM:612301
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Dystonia, Contractures of ... ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Tremor, Osteoporosis, ... ORPHA:904
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, A... ORPHA:2785
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Dystonia ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture OMIM:253800
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response OMIM:617527
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Splenopancreatic fusion, Opisthotonus, Sclerosis of skull base, ... OMIM:269150
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Exaggerated startle response, Osteoporosis, Dystonia, Anemia ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Joint hypermobility OMIM:619522

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.

Phenotype Allele Zygosity Sex Life Stage
Lymph node - hyperplasia Setdb1tm1a(EUCOMM)Wtsi HET Early adult
Lymph node - neoplasm Setdb1tm1a(EUCOMM)Wtsi HET Early adult

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 Setdb1.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Dominant role of DNA methylation over H3K9me3 for IAP silencing in endoderm. Nature communications (September 2022) Setdb1tm1a(EUCOMM)Wtsi PMC9485127
SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation. Gut (June 2020) Setdb1tm1c(EUCOMM)Wtsi 32503845
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Setdb1tm1a(EUCOMM)Wtsi PMC6671969
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) Setdb1tm1a(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
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
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
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
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
Setdb1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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