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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
preweaning lethality, complete penetrance Setdb1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased bone mineral density Setdb1tm1a(EUCOMM)Wtsi HET Early adult 8.76×10-07
increased startle reflex Setdb1tm1a(EUCOMM)Wtsi HET Early adult 1.28×10-13
increased CD4-positive, alpha beta T cell number Setdb1tm1a(EUCOMM)Wtsi HET Early adult 6.09×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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 0.19% (1 of 515)
aorta 0.0%
blood vessel 0.0%
bone 0.0%
brain 0.75% (4 of 531)
brainstem 0.2% (1 of 507)
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.57% (3 of 529)
cerebral cortex 0.19% (1 of 521)
eye 0.0%
gall bladder 0.0%
heart 0.38% (2 of 521)
hippocampus 0.38% (2 of 531)
hypothalamus 0.38% (2 of 531)
kidney 4.62% (25 of 541)
large intestine 5.61% (29 of 517)
liver 0.0%
lower urinary tract 0.19% (1 of 526)
lung 0.38% (2 of 527)
lymph node 0.19% (1 of 532)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.37% (2 of 538)
ovary 0.19% (1 of 532)
oviduct 0.0%
pancreas 0.98% (5 of 510)
parathyroid gland 0.19% (1 of 517)
peripheral nervous system 0.39% (2 of 515)
peyer's patch 0.65% (1 of 153)
pituitary gland 0.0%
prostate gland 2.09% (11 of 526)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 521)
small intestine 5.48% (29 of 529)
spinal cord 0.57% (3 of 523)
spleen 0.37% (2 of 536)
stomach 3.66% (19 of 519)
striatum 0.39% (2 of 518)
testis 1.14% (6 of 527)
thymus 0.19% (1 of 518)
thyroid gland 2.89% (15 of 519)
trachea 0.57% (3 of 525)
uterus 0.38% (2 of 525)
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

6 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
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
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
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
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac... OMIM:231095
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly ORPHA:2204
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia ORPHA:37748
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Increased bone mineral density, Craniosynostosis, Splenomegaly, Osteopetrosis, Pat... OMIM:259700
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar... OMIM:259710
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Oste... ORPHA:53
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Anemia, Th... OMIM:611490
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Majeed Syndrome
Osteomyelitis, Increased bone mineral density, Leukocytosis, Congenital hypoplastic anemia, Splen... ORPHA:77297
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Gaucher Disease Type 1
Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthritis, Pathologic ... ORPHA:77259
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia OMIM:612840
Diastrophic Dysplasia
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density ORPHA:628
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement... ORPHA:93284
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Laryngeal dystonia, Diaphyseal sclerosis, Increased b... ORPHA:94089
Dysosteosclerosis
Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Cranio... ORPHA:1782
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteope... OMIM:259720
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Autoimmune Hypoparathyroidism
Laryngeal dystonia, Increased bone mineral density ORPHA:36913
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Osteopenia, Osteoporosis, Ankylosis OMIM:239000
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Hepatosplenomegaly, Generalized osteosc... ORPHA:763
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia, Cr... OMIM:259730
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... OMIM:131300
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... OMIM:224300
12Q14 Microdeletion Syndrome
Tremor, Abnormality of the spleen, Osteopoikilosis ORPHA:94063
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Thrombocytosis, Sclerosis of hand ... ORPHA:2905
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Werner Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density ORPHA:902
Trichothiodystrophy
Multiple joint contractures, Increased bone mineral density, Craniosynostosis, Intention tremor, ... ORPHA:33364
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Increased bone mineral density, Splenomegaly... ORPHA:355
Desmosterolosis
Osteopetrosis, Increased bone mineral density, Splenomegaly ORPHA:35107
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Gaucher Disease Type 3
Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility to fractures, ... ORPHA:77261
X-Linked Hypophosphatemia
Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostosis, Generalized os... ORPHA:89936
Schwartz-Jampel Syndrome
Joint stiffness, Hip contracture, Blepharospasm, Increased bone mineral density, Abnormally ossif... ORPHA:800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Otopalatodigital Syndrome Type 2
Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation and fusion, Ca... ORPHA:90652
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Abnormal ... ORPHA:2658
Pseudohypoparathyroidism Type 1A
Laryngeal dystonia, Increased bone mineral density, Reduced bone mineral density, Ectopic ossific... ORPHA:79443
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Erdheim-Chester Disease
Osteomyelitis, Anemia, Osteolysis, Increased bone mineral density ORPHA:35687
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation OMIM:259775
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Laryngeal dystonia, Increased bone mineral density ORPHA:79444
Kenny-Caffey Syndrome, Type 2
Anemia, Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Joint laxity, Elbow flexion c... OMIM:617301
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Osteopetrosis, Splenomegaly, Reduced bone mineral density,... ORPHA:667
Atypical Werner Syndrome
Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Progressive clavicula... ORPHA:79474
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly OMIM:612301
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... OMIM:119600
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Limited elbow extension, Tremor, Limited knee e... ORPHA:845
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Leukopenia, Elliptocytosis, Pancytopenia, Anemia, Thrombocyto... ORPHA:2785
Williams Syndrome
Joint stiffness, Increased bone mineral density, Osteopenia, Osteoporosis, Synostosis of joints, ... ORPHA:904
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Dystonia, Contractures of the large joints, Exaggerated ... ORPHA:521426
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis ORPHA:416
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Opisthotonus, Splenopancreatic fusion, Increased density of long bones, ... OMIM:269150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Osteopenia, Osteoporosis, Joint laxity, Anemia, Dystonia ORPHA:438213
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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