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 2 | Maturity-onset diabetes of the young | OMIM:125851 | |
Type 1 Diabetes Mellitus 2 | Type I diabetes mellitus | OMIM:125852 | |
Maturity-Onset Diabetes Of The Young, Type 9 | Maturity-onset diabetes of the young | OMIM:612225 | |
Maturity-Onset Diabetes Of The Young, Type 4 | Type II diabetes mellitus, Maturity-onset diabetes of the young | 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 | Type II diabetes mellitus, Maturity-onset diabetes of the young | OMIM:610508 | |
Type 1 Diabetes Mellitus 20 | Type I diabetes mellitus | OMIM:612520 | |
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 3 | Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young | OMIM:600496 | |
Hyperinsulinemic Hypoglycemia, Familial, 3 | Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia | OMIM:602485 | |
Maturity-Onset Diabetes Of The Young, Type 10 | Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young | OMIM:613370 | |
Type 2 Diabetes Mellitus | Insulin resistance, Type II diabetes mellitus | OMIM:125853 | |
Hypothyroidism, Congenital, Nongoitrous, 7 | Lethargy | OMIM:618573 | |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 | Bradykinesia, Lethargy | OMIM:618683 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Lethargy | ORPHA:79283 | |
Glut1 Deficiency Syndrome 1 | Lethargy, Paroxysmal lethargy | OMIM:606777 | |
Homocystinuria Without Methylmalonic Aciduria | Lethargy | ORPHA:622 | |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 | Lethargy | OMIM:617900 | |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) | Lethargy | OMIM:613710 | |
Maturity-Onset Diabetes Of The Young, Type 14 | Diabetes mellitus, Maturity-onset diabetes of the young | OMIM:616511 | |
Methylmalonic Acidemia With Homocystinuria | Lethargy | ORPHA:26 | |
Immunodeficiency 83, Susceptibility To Viral Infections | Lethargy | OMIM:613002 | |
Developmental And Epileptic Encephalopathy 92 | Lethargy | OMIM:617829 | |
Lethal Infantile Mitochondrial Myopathy | Lethargy | ORPHA:254857 | |
Febrile Infection-Related Epilepsy Syndrome | Lethargy | ORPHA:163703 | |
Mitochondrial Complex I Deficiency, Nuclear Type 3 | Lethargy | OMIM:618224 | |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies | Glucose intolerance, Hyperglycemia | OMIM:307500 | |
Early Myoclonic Encephalopathy | Lethargy | ORPHA:1935 | |
Gaba-Transaminase Deficiency | Lethargy | OMIM:613163 | |
Developmental And Epileptic Encephalopathy 40 | Lethargy | OMIM:617065 | |
Glycine Encephalopathy 1 | Lethargy | OMIM:605899 | |
Dihydropyrimidine Dehydrogenase Deficiency | Lethargy | OMIM:274270 | |
Hyperlysinuria With Hyperammonemia | Lethargy | OMIM:238750 | |
Combined Oxidative Phosphorylation Deficiency 2 | Neonatal death, Lethargy | OMIM:610498 | |
Short Chain Acyl-Coa Dehydrogenase Deficiency | Lethargy | ORPHA:26792 | |
Mitochondrial Complex I Deficiency, Nuclear Type 9 | Neonatal death, Lethargy | OMIM:618232 | |
Hereditary Central Diabetes Insipidus | Lethargy | ORPHA:30925 | |
Severe Canavan Disease | Lethargy | ORPHA:314911 | |
Riboflavin Deficiency | Lethargy | OMIM:615026 | |
Central Neurocytoma | Lethargy, Depression | ORPHA:73256 | |
N-Acetylglutamate Synthase Deficiency | Lethargy | OMIM:237310 | |
Classic Glucose Transporter Type 1 Deficiency Syndrome | Lethargy | ORPHA:71277 | |
Vitamin B12-Responsive Methylmalonic Acidemia | Lethargy | ORPHA:28 | |
2-Methylbutyryl-Coa Dehydrogenase Deficiency | Lethargy | OMIM:610006 | |
Central Diabetes Insipidus | Lethargy, Depression | ORPHA:178029 | |
Thyroid Dyshormonogenesis 1 | Lethargy | OMIM:274400 | |
Benign Samaritan Congenital Myopathy | Lethargy | ORPHA:324581 | |
Dihydrolipoamide Dehydrogenase Deficiency | Lethargy | OMIM:246900 | |
Idiopathic Intracranial Hypertension | Lethargy, Depression | ORPHA:238624 | |
Dihydropyrimidinase Deficiency | Lethargy | OMIM:222748 | |
Crigler-Najjar Syndrome | Lethargy | ORPHA:205 | |
Mitochondrial Complex I Deficiency, Nuclear Type 4 | Lethargy | OMIM:618225 | |
Autosomal Recessive Dopa-Responsive Dystonia | Bradykinesia, Lethargy | ORPHA:101150 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Lethargy | OMIM:613561 | |
Hemochromatosis, Type 2A | Lethargy | OMIM:602390 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Lethargy | ORPHA:276608 | |
Hjv Or Hamp-Related Hemochromatosis | Lethargy | ORPHA:79230 | |
Mitochondrial Complex I Deficiency, Nuclear Type 6 | Lethargy | OMIM:618228 | |
Leukoencephalopathy With Vanishing White Matter 1 | Lethargy | OMIM:603896 | |
Pontocerebellar Hypoplasia, Type 6 | Lethargy | OMIM:611523 | |
Susac Syndrome | Lethargy, Apathy | ORPHA:838 | |
Combined Oxidative Phosphorylation Deficiency 52 | Lethargy | OMIM:619386 | |
Pyruvate Dehydrogenase E1-Alpha Deficiency | Lethargy | OMIM:312170 | |
Mitochondrial Complex I Deficiency, Nuclear Type 5 | Lethargy | OMIM:618226 | |
Cyclic Vomiting Syndrome | Lethargy | OMIM:500007 | |
Hyperphenylalaninemia, Bh4-Deficient, B | Lethargy | OMIM:233910 | |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 | Lethargy | OMIM:618120 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 | Lethargy | OMIM:619064 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Lethargy | ORPHA:49827 | |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type | Lethargy | OMIM:236270 | |
Idiopathic Congenital Hypothyroidism | Lethargy | ORPHA:95717 | |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency | Lethargy | OMIM:250620 | |
Hypercalcemia, Infantile, 1 | Lethargy | OMIM:143880 | |
Isovaleric Acidemia | Lethargy | OMIM:243500 | |
Hyperinsulinism Due To Ucp2 Deficiency | Lethargy | ORPHA:276556 | |
Glutaric Acidemia Type 3 | Lethargy | ORPHA:35706 | |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 | Lethargy | ORPHA:289916 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Lethargy | ORPHA:276575 | |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile | Lethargy | OMIM:600649 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Lethargy | ORPHA:276580 | |
Infantile Liver Failure Syndrome 2 | Lethargy | OMIM:616483 | |
Hyperinsulinism Due To Hnf1A Deficiency | Lethargy | ORPHA:324575 | |
Developmental And Epileptic Encephalopathy 41 | Lethargy | OMIM:617105 | |
Pyruvate Dehydrogenase E3 Deficiency | Lethargy | ORPHA:2394 | |
Evans Syndrome | Lethargy | ORPHA:1959 | |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- | Lethargy | ORPHA:79312 | |
Classic Galactosemia | Lethargy, Depression | ORPHA:79239 | |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency | Lethargy | ORPHA:2089 | |
Multifocal Atrial Tachycardia | Lethargy | ORPHA:3282 | |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | Lethargy | OMIM:238970 | |
Citrullinemia Type I | Lethargy | ORPHA:247525 | |
Vitamin B12-Unresponsive Methylmalonic Acidemia | Lethargy | ORPHA:27 | |
Combined Oxidative Phosphorylation Deficiency 11 | Neonatal death, Lethargy, Stillbirth | OMIM:614922 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Lethargy | OMIM:611590 | |
Carnitine Palmitoyl Transferase 1A Deficiency | Lethargy | ORPHA:156 | |
Typhoid | Lethargy | ORPHA:99745 | |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency | Lethargy | ORPHA:927 | |
Carnitine Deficiency, Systemic Primary | Lethargy | OMIM:212140 | |
Medium Chain Acyl-Coa Dehydrogenase Deficiency | Lethargy | ORPHA:42 | |
Multiple Mitochondrial Dysfunctions Syndrome 1 | Neonatal death, Lethargy | OMIM:605711 | |
Pyruvate Dehydrogenase Deficiency | Lethargy | ORPHA:765 | |
Isolated Atp Synthase Deficiency | Lethargy | ORPHA:254913 | |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of | Lethargy | OMIM:201450 | |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To | Lethargy | OMIM:237300 | |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia | Lethargy | OMIM:614299 | |
Methylmalonic Aciduria And Homocystinuria, Cblj Type | Lethargy | OMIM:614857 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 | Lethargy | OMIM:615838 | |
Maple Syrup Urine Disease | Lethargy | OMIM:248600 | |
Familial Thyroid Dyshormonogenesis | Lethargy | ORPHA:95716 | |
Propionic Acidemia | Lethargy | OMIM:606054 | |
Carnitine Palmitoyltransferase I Deficiency | Lethargy | OMIM:255120 | |
Holocarboxylase Synthetase Deficiency | Lethargy | ORPHA:79242 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 | Lethargy | OMIM:604377 | |
Insulinoma | Lethargy | ORPHA:97279 | |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency | Lethargy | OMIM:210200 | |
Fructose-1,6-Bisphosphatase Deficiency | Lethargy | OMIM:229700 | |
Dengue Fever | Lethargy | ORPHA:99828 | |
Methylcobalamin Deficiency Type Cble | Lethargy | ORPHA:2169 | |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency | Lethargy | OMIM:251000 | |
Resistance To Thyrotropin-Releasing Hormone Syndrome | Lethargy, Depression | ORPHA:99832 | |
Scrub Typhus | Lethargy | ORPHA:83317 | |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of | Lethargy | OMIM:201475 | |
Meningococcal Meningitis | Lethargy | ORPHA:33475 | |
Pseudo-Torch Syndrome 2 | Lethargy | OMIM:617397 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Lethargy | ORPHA:263455 | |
Ogden Syndrome | Lethargy | ORPHA:276432 | |
Carnitine-Acylcarnitine Translocase Deficiency | Lethargy | OMIM:212138 | |
Symptomatic Form Of Hfe-Related Hemochromatosis | Lethargy, Apathy | ORPHA:465508 | |
Staphylococcal Necrotizing Pneumonia | Lethargy | ORPHA:36238 | |
Congenital Disorder Of Glycosylation, Type Ig | Lethargy | OMIM:607143 | |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) | Lethargy | OMIM:607483 | |
Cirrhosis, Familial | Lethargy | OMIM:215600 | |
Methylmalonic Aciduria And Homocystinuria, Cbld Type | Lethargy | OMIM:277410 | |
Mitochondrial Trifunctional Protein Deficiency 1 | Lethargy | OMIM:609015 | |
Citrullinemia Type Ii | Lethargy, Mania | ORPHA:247585 | |
Necrotizing Enterocolitis | Lethargy | ORPHA:391673 | |
Holocarboxylase Synthetase Deficiency | Lethargy | OMIM:253270 | |
Acrodermatitis Enteropathica, Zinc-Deficiency Type | Lethargy | OMIM:201100 | |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal | Lethargy | OMIM:608836 | |
Carnitine-Acylcarnitine Translocase Deficiency | Lethargy | ORPHA:159 | |
Methylmalonic Aciduria, Cblb Type | Lethargy | OMIM:251110 | |
Genetic Transient Congenital Hypothyroidism | Lethargy | ORPHA:226316 | |
Renal Hypoplasia, Bilateral | Lethargy | ORPHA:97362 | |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 | Lethargy | OMIM:618321 | |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of | Lethargy | OMIM:201470 | |
Neurodegeneration And Seizures Due To Copper Transport Defect | Lethargy | OMIM:620306 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Lethargy | OMIM:608643 | |
Methylmalonic Aciduria And Homocystinuria, Cblf Type | Lethargy | OMIM:277380 | |
Transcobalamin Ii Deficiency | Lethargy | OMIM:275350 | |
Mitochondrial Trifunctional Protein Deficiency | Lethargy | ORPHA:746 | |
Encephalitis Lethargica | Lethargy | ORPHA:83600 | |
Autosomal Dominant Progressive External Ophthalmoplegia | Bradykinesia, Lethargy, Bipolar affective disorder, Depression | ORPHA:254892 | |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency | Lethargy | ORPHA:71212 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Lethargy | ORPHA:26793 | |
Methylmalonic Acidemia With Homocystinuria Type Cblf | Lethargy | ORPHA:79284 | |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency | Lethargy | OMIM:210210 | |
3-Hydroxy-3-Methylglutaric Aciduria | Lethargy, Apathy | ORPHA:20 | |
Familial Hypoaldosteronism | Lethargy | ORPHA:427 | |
Ebola Hemorrhagic Fever | Lethargy | ORPHA:319218 | |
Biotinidase Deficiency | Lethargy | OMIM:253260 | |
Sim1-Related Prader-Willi-Like Syndrome | Lethargy | ORPHA:398079 | |
Methylmalonic Aciduria, Cbla Type | Lethargy | OMIM:251100 | |
Isolated Thyroid-Stimulating Hormone Deficiency | Lethargy, Depression | ORPHA:90674 | |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To | Lethargy | OMIM:615751 | |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency | Lethargy | ORPHA:395 | |
Hypothyroidism Due To Tsh Receptor Mutations | Lethargy | ORPHA:90673 | |
Magel2-Related Prader-Willi-Like Syndrome | Lethargy | ORPHA:398069 | |
Glycine Encephalopathy | Lethargy | ORPHA:407 | |
Citrullinemia, Classic | Lethargy | OMIM:215700 | |
Cholera | Lethargy | ORPHA:173 | |
Trichinellosis | Lethargy, Apathy | ORPHA:863 | |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea | Lethargy | OMIM:620233 | |
Medulloblastoma | Lethargy | ORPHA:616 | |
Peroxisome Biogenesis Disorder 5A (Zellweger) | Lethargy | OMIM:614866 | |
Posterior Urethral Valve | Lethargy | ORPHA:93110 | |
Late-Onset Isolated Acth Deficiency | Lethargy | ORPHA:199299 | |
Methylmalonic Aciduria And Homocystinuria, Cblc Type | Lethargy | OMIM:277400 | |
Isolated Complex I Deficiency | Lethargy | ORPHA:2609 | |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To | Lethargy | OMIM:311250 | |
Biotinidase Deficiency | Lethargy | ORPHA:79241 | |
Hereditary Fructose Intolerance | Lethargy | ORPHA:469 | |
Argininosuccinic Aciduria | Lethargy | OMIM:207900 | |
Complete Atrioventricular Septal Defect | Lethargy | ORPHA:1329 | |
Methylmalonic Acidemia With Homocystinuria, Type Cblc | Lethargy | ORPHA:79282 | |
Kufor-Rakeb Syndrome | Bradykinesia, Lethargy, Apathy | ORPHA:306674 | |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) | Lethargy | OMIM:617156 | |
Mitochondrial Complex I Deficiency, Nuclear Type 1 | Lethargy | OMIM:252010 | |
Amoebiasis Due To Free-Living Amoebae | Lethargy | ORPHA:68 | |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | Lethargy | ORPHA:415 | |
Pearson Marrow-Pancreas Syndrome | Lethargy | OMIM:557000 | |
Histiocytoid Cardiomyopathy | Lethargy | ORPHA:137675 | |
Hydranencephaly | Lethargy | ORPHA:2177 | |
Pineoblastoma | Lethargy | ORPHA:251909 | |
Glycerol Kinase Deficiency | Lethargy | OMIM:307030 | |
Semilobar Holoprosencephaly | Lethargy, Apathy, Depression | ORPHA:220386 | |
Alobar Holoprosencephaly | Lethargy, Apathy, Depression | ORPHA:93925 | |
Midline Interhemispheric Variant Of Holoprosencephaly | Lethargy, Apathy, Depression | ORPHA:93926 | |
Lobar Holoprosencephaly | Lethargy, Apathy, Depression | ORPHA:93924 | |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function | Lethargy | ORPHA:226307 | |
Hypothyroidism, Congenital, Nongoitrous, 2 | Lethargy | OMIM:218700 | |
Diamond-Blackfan Anemia | Lethargy | ORPHA:124 | |
Lysinuric Protein Intolerance | Lethargy | ORPHA:470 | |
Multiple Endocrine Neoplasia Type 1 | Lethargy, Depression | ORPHA:652 | |
Fructose Intolerance, Hereditary | Lethargy | OMIM:229600 | |
Marburg Hemorrhagic Fever | Lethargy | ORPHA:99826 | |
Exercise-Induced Malignant Hyperthermia | Lethargy | ORPHA:466650 | |
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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