Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 Scn3a by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Non-Specific Early-Onset Epileptic Encephalopathy | ORPHA:442835 | ||
Epilepsy, Familial Focal, With Variable Foci 4 | OMIM:617935 | ||
Developmental And Epileptic Encephalopathy 62 | OMIM:617938 |
The table below shows human diseases predicted to be associated to Scn3a by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Maturity-Onset Diabetes Of The Young, Type 13 | Maturity-onset diabetes of the young, Maternal diabetes | OMIM:616329 | |
Maturity-Onset Diabetes Of The Young, Type 2 | Maturity-onset diabetes of the young | OMIM:125851 | |
Maturity-Onset Diabetes Of The Young, Type 9 | Maturity-onset diabetes of the young | OMIM:612225 | |
Maturity-Onset Diabetes Of The Young, Type 4 | Maturity-onset diabetes of the young, Type II diabetes mellitus | OMIM:606392 | |
Maturity-Onset Diabetes Of The Young, Type 6 | Maturity-onset diabetes of the young | OMIM:606394 | |
Maturity-Onset Diabetes Of The Young, Type 7 | Maturity-onset diabetes of the young, Type II diabetes mellitus | OMIM:610508 | |
Type 1 Diabetes Mellitus 20 | Type I diabetes mellitus | OMIM:612520 | |
Type 1 Diabetes Mellitus 2 | Type I diabetes mellitus, Diabetes mellitus | OMIM:125852 | |
Maturity-Onset Diabetes Of The Young, Type 14 | Maturity-onset diabetes of the young, Diabetes mellitus | OMIM:616511 | |
Type 1 Diabetes Mellitus 15 | Type I diabetes mellitus, Diabetes mellitus | OMIM:601666 | |
Type 1 Diabetes Mellitus 6 | Diabetes mellitus | OMIM:601941 | |
Type 1 Diabetes Mellitus 10 | Diabetes mellitus | OMIM:601942 | |
Diabetes Mellitus, Transient Neonatal, 2 | Transient neonatal diabetes mellitus, Type II diabetes mellitus | OMIM:610374 | |
Maturity-Onset Diabetes Of The Young, Type 1 | Maturity-onset diabetes of the young | OMIM:125850 | |
Pancreas, Dorsal, Agenesis Of | Diabetes mellitus | OMIM:167755 | |
Maturity-Onset Diabetes Of The Young, Type 3 | Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia | OMIM:600496 | |
Hyperinsulinemic Hypoglycemia, Familial, 3 | Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus | OMIM:602485 | |
Type 2 Diabetes Mellitus | Insulin resistance, Type II diabetes mellitus | OMIM:125853 | |
Maturity-Onset Diabetes Of The Young, Type 10 | Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus | OMIM:613370 | |
Maturity-Onset Diabetes Of The Young, Type 11 | Maturity-onset diabetes of the young, Diabetes mellitus | OMIM:613375 | |
Hypothyroidism, Congenital, Nongoitrous, 7 | Lethargy | OMIM:618573 | |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 | Confusion, Lethargy | OMIM:617900 | |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 | Bradykinesia, Lethargy | OMIM:618683 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Lethargy | ORPHA:79283 | |
Immunodeficiency 83, Susceptibility To Viral Infections | Confusion, Lethargy | OMIM:613002 | |
Glut1 Deficiency Syndrome 1 | Confusion, Paroxysmal lethargy, Lethargy | OMIM:606777 | |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) | Lethargy | OMIM:613710 | |
Homocystinuria Without Methylmalonic Aciduria | Lethargy | ORPHA:622 | |
Hyperlysinuria With Hyperammonemia | Coma, Lethargy | OMIM:238750 | |
N-Acetylglutamate Synthase Deficiency | Coma, Lethargy, Confusion | OMIM:237310 | |
Mitochondrial Complex I Deficiency, Nuclear Type 3 | Lethargy | OMIM:618224 | |
Methylmalonic Acidemia With Homocystinuria | Lethargy | ORPHA:26 | |
Gaba-Transaminase Deficiency | Lethargy | OMIM:613163 | |
Developmental And Epileptic Encephalopathy 92 | Lethargy | OMIM:617829 | |
Lethal Infantile Mitochondrial Myopathy | Lethargy | ORPHA:254857 | |
Febrile Infection-Related Epilepsy Syndrome | Lethargy | ORPHA:163703 | |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies | Glucose intolerance, Hyperglycemia | OMIM:307500 | |
Early Myoclonic Encephalopathy | Lethargy | ORPHA:1935 | |
Glycine Encephalopathy | Lethargy | OMIM:605899 | |
Mitochondrial Complex I Deficiency, Nuclear Type 6 | Lethargy | OMIM:618228 | |
Developmental And Epileptic Encephalopathy 41 | Lethargy | OMIM:617105 | |
Developmental And Epileptic Encephalopathy 40 | Lethargy | OMIM:617065 | |
Dihydropyrimidine Dehydrogenase Deficiency | Lethargy | OMIM:274270 | |
Vitamin B12-Responsive Methylmalonic Acidemia | Coma, Lethargy | ORPHA:28 | |
Multiple Mitochondrial Dysfunctions Syndrome 1 | Lethargy | OMIM:605711 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Drowsiness, Coma, Lethargy | ORPHA:276608 | |
Encephalopathy, Recurrent, Of Childhood | Lethargy | OMIM:130950 | |
Combined Oxidative Phosphorylation Deficiency 2 | Neonatal death, Lethargy | OMIM:610498 | |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of | Lethargy | OMIM:201470 | |
Classic Glucose Transporter Type 1 Deficiency Syndrome | Confusion, Lethargy | ORPHA:71277 | |
Mitochondrial Complex I Deficiency, Nuclear Type 4 | Lethargy | OMIM:618225 | |
Hyperinsulinism Due To Ucp2 Deficiency | Lethargy, Hypoglycemic coma, Drowsiness, Loss of consciousness | ORPHA:276556 | |
Short Chain Acyl-Coa Dehydrogenase Deficiency | Lethargy | ORPHA:26792 | |
Hereditary Central Diabetes Insipidus | Lethargy | ORPHA:30925 | |
Riboflavin Deficiency | Lethargy | OMIM:615026 | |
Severe Canavan Disease | Lethargy | ORPHA:314911 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Lethargy, Hypoglycemic coma, Drowsiness, Loss of consciousness | ORPHA:276575 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Lethargy, Hypoglycemic coma, Drowsiness, Loss of consciousness | ORPHA:276580 | |
Glycerol Kinase Deficiency | Coma, Lethargy, Loss of consciousness | OMIM:307030 | |
Dihydrolipoamide Dehydrogenase Deficiency | Lethargy | OMIM:246900 | |
Hyperinsulinism Due To Hnf1A Deficiency | Lethargy, Hypoglycemic coma, Drowsiness, Loss of consciousness | ORPHA:324575 | |
Pyruvate Dehydrogenase E1-Alpha Deficiency | Lethargy | OMIM:312170 | |
Central Neurocytoma | Coma, Lethargy | ORPHA:73256 | |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency | Coma, Delirium, Confusion, Drowsiness, Lethargy, Loss of consciousness | ORPHA:927 | |
2-Methylbutyryl-Coa Dehydrogenase Deficiency | Lethargy | OMIM:610006 | |
Thyroid Dyshormonogenesis 1 | Lethargy | OMIM:274400 | |
Carnitine Deficiency, Systemic Primary | Excessive daytime somnolence, Coma, Confusion, Lethargy | OMIM:212140 | |
Crigler-Najjar Syndrome | Lethargy | ORPHA:205 | |
Benign Samaritan Congenital Myopathy | Lethargy | ORPHA:324581 | |
Central Diabetes Insipidus | Excessive daytime somnolence, Lethargy | ORPHA:178029 | |
Carnitine Palmitoyl Transferase 1A Deficiency | Coma, Lethargy, Loss of consciousness | ORPHA:156 | |
Estrogen Resistance | Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance | OMIM:615363 | |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type | Lethargy | OMIM:236270 | |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia | Lethargy | OMIM:614299 | |
Citrullinemia Type I | Coma, Lethargy, Loss of consciousness | ORPHA:247525 | |
Autosomal Recessive Dopa-Responsive Dystonia | Bradykinesia, Lethargy | ORPHA:101150 | |
Isovaleric Acidemia | Coma, Lethargy | OMIM:243500 | |
Hemochromatosis, Type 2A | Lethargy | OMIM:602390 | |
Mitochondrial Complex I Deficiency, Nuclear Type 5 | Lethargy | OMIM:618226 | |
Hemochromatosis Type 2 | Lethargy | ORPHA:79230 | |
Dihydropyrimidinase Deficiency | Excessive daytime somnolence, Lethargy | OMIM:222748 | |
Mitochondrial Complex I Deficiency, Nuclear Type 9 | Lethargy | OMIM:618232 | |
Myxedema | Lethargy | OMIM:255900 | |
Leukoencephalopathy With Vanishing White Matter | Lethargy | OMIM:603896 | |
Combined Oxidative Phosphorylation Deficiency 52 | Lethargy | OMIM:619386 | |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 | Coma, Lethargy | ORPHA:289916 | |
Susac Syndrome | Confusion, Lethargy | ORPHA:838 | |
Cyclic Vomiting Syndrome | Lethargy | OMIM:500007 | |
Idiopathic Congenital Hypothyroidism | Lethargy | ORPHA:95717 | |
Multiple Carboxylase Deficiency | Coma, Lethargy | ORPHA:148 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Lethargy | ORPHA:49827 | |
Idiopathic Intracranial Hypertension | Lethargy | ORPHA:238624 | |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- | Coma, Lethargy | ORPHA:79312 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 | Lethargy | OMIM:619064 | |
Insulinoma | Fluctuations in consciousness, Lethargy, Coma, Reduced consciousness/confusion | ORPHA:97279 | |
Hyperphenylalaninemia, Bh4-Deficient, B | Lethargy | OMIM:233910 | |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 | Lethargy | OMIM:618120 | |
Vitamin B12-Unresponsive Methylmalonic Acidemia | Coma, Lethargy | ORPHA:27 | |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | Coma, Confusion, Lethargy | OMIM:238970 | |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To | Coma, Lethargy | OMIM:237300 | |
Medium Chain Acyl-Coa Dehydrogenase Deficiency | Coma, Lethargy, Loss of consciousness | ORPHA:42 | |
Typhoid | Coma, Lethargy | ORPHA:99745 | |
Carnitine Palmitoyltransferase I Deficiency | Coma, Lethargy | OMIM:255120 | |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of | Coma, Lethargy | OMIM:201450 | |
Glutaric Acidemia Type 3 | Lethargy | ORPHA:35706 | |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile | Lethargy | OMIM:600649 | |
Dopa-Responsive Dystonia | Lethargy | ORPHA:255 | |
Infantile Liver Failure Syndrome 2 | Lethargy | OMIM:616483 | |
Maple Syrup Urine Disease | Coma, Lethargy | OMIM:248600 | |
Hypercalcemia, Infantile, 1 | Lethargy | OMIM:143880 | |
Methylcobalamin Deficiency Type Cble | Excessive daytime somnolence, Drowsiness, Lethargy, Loss of consciousness | ORPHA:2169 | |
Evans Syndrome | Lethargy | ORPHA:1959 | |
Holocarboxylase Synthetase Deficiency | Coma, Lethargy | ORPHA:79242 | |
Pyruvate Dehydrogenase E3 Deficiency | Lethargy | ORPHA:2394 | |
Citrullinemia Type Ii | Fluctuations in consciousness, Coma, Delirium, Confusion, Drowsiness, Lethargy | ORPHA:247585 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 | Coma, Lethargy | OMIM:615838 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Lethargy | OMIM:611590 | |
Meningococcal Meningitis | Lethargy, Drowsiness, Reduced consciousness/confusion | ORPHA:33475 | |
Fructose-1,6-Bisphosphatase Deficiency | Coma, Lethargy | OMIM:229700 | |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency | Lethargy | ORPHA:2089 | |
Hyperinsulinism Due To Hnf4A Deficiency | Drowsiness, Coma, Lethargy | ORPHA:263455 | |
Galactosemia | Lethargy | ORPHA:352 | |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency | Coma, Lethargy | OMIM:210200 | |
Classic Galactosemia | Lethargy | ORPHA:79239 | |
Pyruvate Dehydrogenase Deficiency | Lethargy | ORPHA:765 | |
Scrub Typhus | Lethargy, Reduced consciousness/confusion | ORPHA:83317 | |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To | Lethargy | OMIM:615751 | |
Propionic Acidemia | Coma, Lethargy | OMIM:606054 | |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency | Coma, Lethargy | OMIM:251000 | |
Methylmalonic Aciduria And Homocystinuria, Cblj Type | Lethargy | OMIM:614857 | |
Holocarboxylase Synthetase Deficiency | Coma, Lethargy | OMIM:253270 | |
Familial Thyroid Dyshormonogenesis | Lethargy | ORPHA:95716 | |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) | Coma, Confusion, Lethargy | OMIM:607483 | |
Ogden Syndrome | Excessive daytime somnolence, Lethargy | ORPHA:276432 | |
Spinocerebellar Ataxia, X-Linked 3 | Lethargy | OMIM:301790 | |
Carnitine-Acylcarnitine Translocase Deficiency | Coma, Lethargy | OMIM:212138 | |
Combined Oxidative Phosphorylation Deficiency 11 | Lethargy | OMIM:614922 | |
Visceral Steatosis, Congenital | Coma, Neonatal death, Lethargy | OMIM:228100 | |
Dengue Fever | Lethargy | ORPHA:99828 | |
Staphylococcal Necrotizing Pneumonia | Confusion, Lethargy | ORPHA:36238 | |
Methylmalonic Aciduria, Cblb Type | Coma, Lethargy | OMIM:251110 | |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of | Lethargy | OMIM:201475 | |
Methylmalonic Aciduria, Cbla Type | Coma, Lethargy | OMIM:251100 | |
Pseudo-Torch Syndrome 2 | Lethargy | OMIM:617397 | |
Methylmalonic Aciduria And Homocystinuria, Cbld Type | Lethargy | OMIM:277410 | |
Carnitine-Acylcarnitine Translocase Deficiency | Coma, Lethargy | ORPHA:159 | |
Cirrhosis, Familial | Lethargy | OMIM:215600 | |
Encephalitis Lethargica | Coma, Lethargy | ORPHA:83600 | |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency | Coma, Lethargy | OMIM:210210 | |
Resistance To Thyrotropin-Releasing Hormone Syndrome | Lethargy | ORPHA:99832 | |
Mitochondrial Trifunctional Protein Deficiency | Coma, Lethargy | ORPHA:746 | |
Transcobalamin Ii Deficiency | Lethargy | OMIM:275350 | |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency | Confusion, Lethargy | ORPHA:71212 | |
Symptomatic Form Of Hemochromatosis Type 1 | Lethargy | ORPHA:465508 | |
Necrotizing Enterocolitis | Lethargy | ORPHA:391673 | |
Mitochondrial Trifunctional Protein Deficiency | Lethargy | OMIM:609015 | |
Methylmalonic Aciduria And Homocystinuria, Cblc Type | Delirium, Confusion, Lethargy | OMIM:277400 | |
Methylmalonic Aciduria And Homocystinuria, Cblf Type | Lethargy | OMIM:277380 | |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal | Lethargy | OMIM:608836 | |
Trichinellosis | Excessive daytime somnolence, Lethargy, Confusion, Reduced consciousness/confusion | ORPHA:863 | |
Acrodermatitis Enteropathica, Zinc-Deficiency Type | Lethargy | OMIM:201100 | |
Citrullinemia, Classic | Coma, Lethargy | OMIM:215700 | |
3-Hydroxy-3-Methylglutaric Aciduria | Hypoglycemic coma, Coma, Lethargy | ORPHA:20 | |
Cholera | Lethargy, Loss of consciousness | ORPHA:173 | |
Genetic Transient Congenital Hypothyroidism | Lethargy | ORPHA:226316 | |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 | Lethargy | OMIM:618321 | |
Familial Hypoaldosteronism | Lethargy | ORPHA:427 | |
Ebola Hemorrhagic Fever | Lethargy | ORPHA:319218 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Lethargy | ORPHA:26793 | |
Methylmalonic Acidemia With Homocystinuria Type Cblf | Lethargy | ORPHA:79284 | |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To | Coma, Lethargy | OMIM:311250 | |
Hereditary Fructose Intolerance | Coma, Lethargy | ORPHA:469 | |
Biotinidase Deficiency | Lethargy | OMIM:253260 | |
Sim1-Related Prader-Willi-Like Syndrome | Lethargy | ORPHA:398079 | |
Hypothyroidism Due To Tsh Receptor Mutations | Lethargy | ORPHA:90673 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Lethargy | OMIM:608643 | |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency | Lethargy | ORPHA:395 | |
Argininosuccinic Aciduria | Coma, Lethargy | OMIM:207900 | |
Amoebiasis Due To Free-Living Amoebae | Coma, Confusion, Lethargy, Loss of consciousness | ORPHA:68 | |
Magel2-Related Prader-Willi-Like Syndrome | Lethargy | ORPHA:398069 | |
Glycine Encephalopathy | Lethargy | ORPHA:407 | |
Posterior Urethral Valve | Lethargy | ORPHA:93110 | |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | Coma, Confusion, Lethargy | ORPHA:415 | |
Autosomal Dominant Progressive External Ophthalmoplegia | Bradykinesia, Lethargy | ORPHA:254892 | |
Medulloblastoma | Lethargy | ORPHA:616 | |
Pineoblastoma | Lethargy, Reduced consciousness/confusion | ORPHA:251909 | |
Late-Onset Isolated Acth Deficiency | Lethargy | ORPHA:199299 | |
Biotinidase Deficiency | Lethargy | ORPHA:79241 | |
Histiocytoid Cardiomyopathy | Drowsiness, Lethargy, Loss of consciousness | ORPHA:137675 | |
Methylmalonic Acidemia With Homocystinuria, Type Cblc | Delirium, Lethargy | ORPHA:79282 | |
Isolated Complex I Deficiency | Lethargy | ORPHA:2609 | |
Complete Atrioventricular Septal Defect | Lethargy | ORPHA:1329 | |
Isolated Thyroid-Stimulating Hormone Deficiency | Lethargy | ORPHA:90674 | |
Mitochondrial Complex I Deficiency, Nuclear Type 1 | Coma, Lethargy | OMIM:252010 | |
Kufor-Rakeb Syndrome | Confusion, Lethargy, Bradykinesia | ORPHA:306674 | |
Hydranencephaly | Lethargy | ORPHA:2177 | |
Pearson Marrow-Pancreas Syndrome | Lethargy | OMIM:557000 | |
Exercise-Induced Malignant Hyperthermia | Delirium, Confusion, Lethargy | ORPHA:466650 | |
Marburg Hemorrhagic Fever | Coma, Drowsiness, Confusion, Lethargy | ORPHA:99826 | |
Fructose Intolerance, Hereditary | Coma, Lethargy | OMIM:229600 | |
Multiple Endocrine Neoplasia Type 1 | Coma, Decreased vigilance, Confusion, Lethargy | ORPHA:652 | |
Hypothyroidism, Congenital, Nongoitrous, 2 | Lethargy | OMIM:218700 | |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function | Lethargy | ORPHA:226307 | |
Lysinuric Protein Intolerance | Coma, Lethargy | ORPHA:470 | |
Blackfan-Diamond Anemia | Lethargy | ORPHA:124 | |
Semilobar Holoprosencephaly | Lethargy | ORPHA:220386 | |
Alobar Holoprosencephaly | Lethargy | ORPHA:93925 | |
Midline Interhemispheric Variant Of Holoprosencephaly | Lethargy | ORPHA:93926 | |
Lobar Holoprosencephaly | Lethargy | ORPHA:93924 | |
Eisenmenger Syndrome | Lethargy | ORPHA:97214 | |
Paroxysmal Nocturnal Hemoglobinuria | Lethargy | ORPHA:447 | |
Non-Specific Early-Onset Epileptic Encephalopathy | ORPHA:442835 | ||
Epilepsy, Familial Focal, With Variable Foci 4 | OMIM:617935 | ||
Developmental And Epileptic Encephalopathy 62 | OMIM:617938 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Scn3atm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Scn3atm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
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