Gene: Setd1b MGI:2652820

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Gene Summary

SET domain containing 1B

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 circulating amylase level Setd1btm1.2(IMPC)Wtsi HET Early adult 3.35×10-08
decreased circulating triglyceride level Setd1btm1.2(IMPC)Wtsi HET Early adult 9.10×10-05
increased bone mineral density Setd1btm1.2(IMPC)Wtsi HET Early adult 2.79×10-06
decreased circulating cholesterol level Setd1btm1.2(IMPC)Wtsi HET Early adult 1.17×10-05
increased lean body mass Setd1btm1.2(IMPC)Wtsi HET Early adult 5.60×10-15
decreased total body fat amount Setd1btm1.2(IMPC)Wtsi HET Early adult 1.03×10-13
decreased circulating HDL cholesterol level Setd1btm1.2(IMPC)Wtsi HET Early adult 1.69×10-05

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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.

Phenotype associated images not available

Human diseases caused by Setd1b 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 Setd1b by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Intellectual Developmental Disorder With Seizures And Language Delay

The table below shows human diseases predicted to be associated to Setd1b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Buschke-Ollendorff Syndrome
Flexion contracture, Connective tissue nevi, Joint stiffness, Osteopoikilosis OMIM:166700
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Atypical scarring of skin, Ectopic ossification in muscle tissue, Increased bone mineral density,... ORPHA:2485
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Increased bone mineral density OMIM:166450
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Gout, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Increased bone mineral density OMIM:265880
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy OMIM:232700
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Hypocholesterolemia OMIM:616834
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy... OMIM:616000
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Failure to thrive in infancy, Hypocholest... OMIM:618156
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Failure to thrive OMIM:607765
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Abnormal circulating lipid concentration OMIM:615238
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Decreased body weight, Umbilical hernia, Increased bone minera... OMIM:614856
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Lipodystrophy, Hypertriglyceridemia, Reduced subcutaneous adi... OMIM:612526
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinemia, Recurrent fractures, Hyperuricemia, Inc... OMIM:239000
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Buschke-Ollendorff Syndrome
Craniosynostosis, Atypical scarring of skin, Flexion contracture, Connective tissue nevi, General... ORPHA:1306
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fractur... OMIM:259700
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hypocholesterolemia OMIM:610883
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Increased bone density with cystic changes, Hypocalcemic tetany,... ORPHA:94089
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Albers-Schönberg Osteopetrosis
Hypocalcemia, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoart... ORPHA:53
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypocholesterolemia, Hypoalbu... OMIM:212065
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Hypocholesterolemia, Decreased LDL cholesterol conce... ORPHA:96180
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Diastrophic Dwarfism
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurrent fractures, Increased bone... ORPHA:1782
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Majeed Syndrome
Flexion contracture, Synovitis, Weight loss, Increased bone mineral density, Increased susceptibi... ORPHA:77297
Hypotriglyceridemia, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decreased LDL choleste... ORPHA:14
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Renal hypophosph... ORPHA:289176
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Adipose tissue loss, Increased adipose tissue... OMIM:151660
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density ORPHA:3352
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Increased bone mineral density, Small for gestational a... OMIM:127000
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Mandibular osteomyelitis, Osteomyelitis... OMIM:259710
Osteopetrosis With Renal Tubular Acidosis
Reduced bone mineral density, Recurrent fractures, Osteopetrosis, Failure to thrive ORPHA:2785
Camurati-Engelmann Disease
Slender build, Cortical thickening of long bone diaphyses, Increased bone mineral density, Reduce... OMIM:131300
X-Linked Hypophosphatemia
Hypophosphatemia, Craniosynostosis, Cellulitis, Rickets, Odontodysplasia, Enthesitis, Generalized... ORPHA:89936
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Werner Syndrome
Slender build, Osteoporosis, Chondrocalcinosis, Lipodystrophy, Lipoatrophy, Increased bone minera... ORPHA:902
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Calcinosis,... ORPHA:79444
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Weight loss, Sclerosis of foot bone, Sclerosis of skull base ORPHA:2905
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Flexion contracture of toe, Umbilical hernia, D... ORPHA:800
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Calcinosis,... ORPHA:79443
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Gaucher Disease Type 1
Osteolysis, Increased bone mineral density, Pathologic fracture, Osteopenia, Osteoarthritis ORPHA:77259
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Arthrogryposis multiplex congenita, Generalized osteosclerosis, Failure to thrive, Joint contract... OMIM:602398
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Osteopetrosis OMIM:618476
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Truncal obesity, Abdominal obesity OMIM:615812
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Omphalocele, Carpal synos... ORPHA:90652
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Massively thickened long bone cortices, Increased bone mineral... ORPHA:1798
Raine Syndrome
Hypophosphatemia, Arthrogryposis multiplex congenita, Enamel hypoplasia, Increased bone mineral d... OMIM:259775
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnorm... ORPHA:2658
Enamel hypoplasia, Craniosynostosis, Absence of subcutaneous fat, Umbilical hernia, Increased bon... ORPHA:33364
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Recurrent fractures, Increased bone mineral densi... ORPHA:355
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Osteopetrosis OMIM:259720
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Hyperphosphatemia, Patchy osteosclerosis ORPHA:2323
Osteopetrosis, Failure to thrive, Increased bone mineral density ORPHA:35107
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Chondrocalcinosis, Lipoatrophy, Decreased body weight, Incr... ORPHA:79474
Erdheim-Chester Disease
Xanthelasma, Osteolysis, Weight loss, Increased bone mineral density, Osteomyelitis ORPHA:35687
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Hyperoxaluria, Primary, Type I
Pathologic fracture, Hyperoxaluria, Increased bone mineral density OMIM:259900
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Elevated 7-dehydrocholesterol, Failure to thrive, Hypocholesterolemia OMIM:270400
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures, Hyperoxaluria, Failure to thrive ORPHA:416
Gaucher Disease Type 3
Osteolysis, Increased susceptibility to fractures, Increased bone mineral density ORPHA:77261
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed pubic bone ossification, Increased susceptibility to fractures, Increa... OMIM:119600
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Williams Syndrome
Osteoporosis, Abnormal dental enamel morphology, Radioulnar synostosis, Joint laxity, Synostosis ... ORPHA:904
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures OMIM:612301
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Recurrent fractures, Osteopetrosis, Reduced bon... ORPHA:667
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Thickened cortex of long bones, Sclerosis of skull base, Failure... OMIM:269150
Intellectual Developmental Disorder With Seizures And Language Delay


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 Setd1b

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 Setd1b.

No publications found that use IMPC mice or data for Setd1b.

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MGI Allele Allele Type Produced
Setd1btm1.2(IMPC)Wtsi Reporter-tagged deletion allele (post Flp, with no reporter and selection cassette) Mice
Setd1btm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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