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 | Unsteady gait, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking | ORPHA:442835 | |
Developmental And Epileptic Encephalopathy 62 | Inability to walk | OMIM:617938 | |
Epilepsy, Familial Focal, With Variable Foci 4 | OMIM:617935 |
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 | Diabetes mellitus, Type I 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 | Diabetes mellitus, Type I 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 | Type II diabetes mellitus, Transient neonatal 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 | Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus | OMIM:600496 | |
Hyperinsulinemic Hypoglycemia, Familial, 3 | Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus | OMIM:602485 | |
Type 2 Diabetes Mellitus | Type II diabetes mellitus, Insulin resistance | OMIM:125853 | |
Maturity-Onset Diabetes Of The Young, Type 10 | Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus | OMIM:613370 | |
Wolfram-Like Syndrome, Autosomal Dominant | Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus | OMIM:614296 | |
Maturity-Onset Diabetes Of The Young, Type 11 | Maturity-onset diabetes of the young, Diabetes mellitus | OMIM:613375 | |
Insulinomatosis And Diabetes Mellitus | Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus | OMIM:147630 | |
Developmental And Epileptic Encephalopathy 92 | Dystonia, Ataxia, Inability to walk, Difficulty walking, Lethargy | OMIM:617829 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Gait disturbance, Lethargy | ORPHA:79283 | |
Glut1 Deficiency Syndrome 1 | Paroxysmal dystonia, Paroxysmal lethargy, Ataxia, Confusion, Lethargy | OMIM:606777 | |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 | Ataxia, Bradykinesia, Lethargy | OMIM:618683 | |
Hypothyroidism, Congenital, Nongoitrous, 7 | Lethargy | OMIM:618573 | |
Mitochondrial Complex I Deficiency, Nuclear Type 3 | Dystonia, Ataxia, Lethargy | OMIM:618224 | |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 | Confusion, Lethargy | OMIM:617900 | |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) | Difficulty walking, Lethargy | OMIM:613710 | |
Homocystinuria Without Methylmalonic Aciduria | Ataxia, Lethargy | ORPHA:622 | |
Immunodeficiency 83, Susceptibility To Viral Infections | Confusion, Lethargy | OMIM:613002 | |
Methylmalonic Acidemia With Homocystinuria | Gait disturbance, Lethargy | ORPHA:26 | |
Hyperlysinuria With Hyperammonemia | Coma, Lethargy | OMIM:238750 | |
N-Acetylglutamate Synthase Deficiency | Coma, Confusion, Lethargy | OMIM:237310 | |
Glycine Encephalopathy | Hyperactivity, Lethargy | OMIM:605899 | |
Autosomal Recessive Dopa-Responsive Dystonia | Bradykinesia, Focal dystonia, Ataxia, Limb dystonia, Generalized dystonia, Oculogyric crisis, Gai... | ORPHA:101150 | |
Developmental And Epileptic Encephalopathy 41 | Inability to walk, Lethargy | OMIM:617105 | |
Dihydropyrimidine Dehydrogenase Deficiency | Hyperactivity, Lethargy | OMIM:274270 | |
Gaba-Transaminase Deficiency | Lethargy | OMIM:613163 | |
Classic Glucose Transporter Type 1 Deficiency Syndrome | Confusion, Dystonia, Ataxia, Lethargy | ORPHA:71277 | |
Lethal Infantile Mitochondrial Myopathy | Lethargy | ORPHA:254857 | |
Mitochondrial Complex I Deficiency, Nuclear Type 4 | Ataxia, Lethargy | OMIM:618225 | |
Dihydrolipoamide Dehydrogenase Deficiency | Dystonia, Ataxia, Lethargy | OMIM:246900 | |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies | Hyperglycemia, Glucose intolerance | OMIM:307500 | |
Febrile Infection-Related Epilepsy Syndrome | Lethargy | ORPHA:163703 | |
Early Myoclonic Encephalopathy | Lethargy | ORPHA:1935 | |
Mitochondrial Complex I Deficiency, Nuclear Type 6 | Lethargy | OMIM:618228 | |
Short Chain Acyl-Coa Dehydrogenase Deficiency | Dystonia, Lethargy | ORPHA:26792 | |
Vitamin B12-Responsive Methylmalonic Acidemia | Coma, Lethargy | ORPHA:28 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Coma, Drowsiness, Lethargy | ORPHA:276608 | |
Pyruvate Dehydrogenase E1-Alpha Deficiency | Dystonia, Episodic ataxia, Lethargy | OMIM:312170 | |
Multiple Mitochondrial Dysfunctions Syndrome 1 | Lethargy | OMIM:605711 | |
Severe Canavan Disease | Inability to walk, Lethargy | ORPHA:314911 | |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of | Lethargy | OMIM:201470 | |
Cirrhosis, Familial | Lethargy | OMIM:215600 | |
Dopa-Responsive Dystonia | Dystonia, Gait disturbance, Arm dystonia, Inability to walk, Generalized dystonia, Oculogyric cri... | ORPHA:255 | |
Citrullinemia Type I | Torticollis, Ataxia, Coma, Loss of consciousness, Lethargy | ORPHA:247525 | |
Hyperinsulinism Due To Ucp2 Deficiency | Hypoglycemic coma, Loss of consciousness, Drowsiness, Lethargy | ORPHA:276556 | |
Central Neurocytoma | Ataxia, Coma, Lethargy | ORPHA:73256 | |
Encephalopathy, Recurrent, Of Childhood | Athetosis, Truncal ataxia, Lethargy | OMIM:130950 | |
Mitochondrial Complex I Deficiency, Nuclear Type 5 | Dystonia, Ataxia, Lethargy | OMIM:618226 | |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency | Drowsiness, Ataxia, Coma, Loss of consciousness, Delirium, Confusion, Lethargy | ORPHA:927 | |
Hereditary Central Diabetes Insipidus | Lethargy | ORPHA:30925 | |
Cyclic Vomiting Syndrome | Ataxia, Attention deficit hyperactivity disorder, Lethargy | OMIM:500007 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Hypoglycemic coma, Loss of consciousness, Drowsiness, Lethargy | ORPHA:276575 | |
Glycerol Kinase Deficiency | Coma, Loss of consciousness, Lethargy | OMIM:307030 | |
Combined Oxidative Phosphorylation Deficiency 2 | Lethargy | OMIM:610498 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Hypoglycemic coma, Loss of consciousness, Drowsiness, Lethargy | ORPHA:276580 | |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type | Gait disturbance, Lethargy | OMIM:236270 | |
Hyperinsulinism Due To Hnf1A Deficiency | Hypoglycemic coma, Loss of consciousness, Drowsiness, Lethargy | ORPHA:324575 | |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia | Ataxia, Lethargy | OMIM:614299 | |
Leukoencephalopathy With Vanishing White Matter | Unsteady gait, Gait disturbance, Lethargy | OMIM:603896 | |
Carnitine Deficiency, Systemic Primary | Coma, Confusion, Excessive daytime somnolence, Lethargy | OMIM:212140 | |
Thyroid Dyshormonogenesis 1 | Lethargy | OMIM:274400 | |
2-Methylbutyryl-Coa Dehydrogenase Deficiency | Lethargy | OMIM:610006 | |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 | Gait imbalance, Lethargy | OMIM:618120 | |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 | Dystonia, Coma, Lethargy | ORPHA:289916 | |
Crigler-Najjar Syndrome | Lethargy | ORPHA:205 | |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To | Lethargy, Ataxia, Coma, Episodic ataxia | OMIM:311250 | |
Carnitine Palmitoyl Transferase 1A Deficiency | Coma, Loss of consciousness, Lethargy | ORPHA:156 | |
Central Diabetes Insipidus | Excessive daytime somnolence, Lethargy | ORPHA:178029 | |
Susac Syndrome | Gait ataxia, Confusion, Lethargy | ORPHA:838 | |
Benign Samaritan Congenital Myopathy | Lethargy | ORPHA:324581 | |
Isovaleric Acidemia | Coma, Lethargy | OMIM:243500 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 | Gait disturbance, Ataxia, Lethargy | OMIM:615838 | |
Estrogen Resistance | Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia | OMIM:615363 | |
Hemochromatosis, Type 2A | Lethargy | OMIM:602390 | |
Multiple Carboxylase Deficiency | Ataxia, Coma, Lethargy | ORPHA:148 | |
Dihydropyrimidinase Deficiency | Excessive daytime somnolence, Lethargy | OMIM:222748 | |
Hemochromatosis Type 2 | Lethargy | ORPHA:79230 | |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- | Dystonia, Coma, Lethargy | ORPHA:79312 | |
Mitochondrial Complex I Deficiency, Nuclear Type 9 | Lethargy | OMIM:618232 | |
Hyperphenylalaninemia, Bh4-Deficient, B | Dystonia, Lethargy | OMIM:233910 | |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To | Ataxia, Coma, Lethargy | OMIM:237300 | |
Classic Galactosemia | Dystonia, Gait disturbance, Gait imbalance, Ataxia, Attention deficit hyperactivity disorder, Let... | ORPHA:79239 | |
Myxedema | Lethargy | OMIM:255900 | |
Vitamin B12-Unresponsive Methylmalonic Acidemia | Ataxia, Coma, Lethargy | ORPHA:27 | |
Galactosemia | Dystonia, Gait disturbance, Gait imbalance, Ataxia, Lethargy | ORPHA:352 | |
Combined Oxidative Phosphorylation Deficiency 52 | Lethargy | OMIM:619386 | |
Idiopathic Congenital Hypothyroidism | Lethargy | ORPHA:95717 | |
Typhoid | Ataxia, Coma, Lethargy | ORPHA:99745 | |
Pyruvate Dehydrogenase Deficiency | Dystonia, Gait disturbance, Ataxia, Lethargy | ORPHA:765 | |
Maple Syrup Urine Disease | Ataxia, Coma, Lethargy | OMIM:248600 | |
Medium Chain Acyl-Coa Dehydrogenase Deficiency | Ataxia, Loss of consciousness, Coma, Lethargy | ORPHA:42 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Lethargy | ORPHA:49827 | |
Acrodermatitis Enteropathica, Zinc-Deficiency Type | Ataxia, Lethargy | OMIM:201100 | |
Insulinoma | Lethargy, Fluctuations in consciousness, Coma, Reduced consciousness/confusion | ORPHA:97279 | |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) | Dystonia, Coma, Inability to walk, Craniofacial dystonia, Gait ataxia, Confusion, Lethargy | OMIM:607483 | |
Holocarboxylase Synthetase Deficiency | Ataxia, Coma, Lethargy | ORPHA:79242 | |
Idiopathic Intracranial Hypertension | Lethargy | ORPHA:238624 | |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | Coma, Confusion, Lethargy | OMIM:238970 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 | Lethargy | OMIM:619064 | |
Pyruvate Dehydrogenase E3 Deficiency | Ataxia, Lethargy | ORPHA:2394 | |
Carnitine Palmitoyltransferase I Deficiency | Coma, Lethargy | OMIM:255120 | |
Glutaric Acidemia Type 3 | Lethargy | ORPHA:35706 | |
Citrullinemia Type Ii | Drowsiness, Hyperactivity, Coma, Fluctuations in consciousness, Delirium, Confusion, Lethargy | ORPHA:247585 | |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of | Coma, Lethargy | OMIM:201450 | |
Evans Syndrome | Lethargy | ORPHA:1959 | |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency | Coma, Lethargy | OMIM:210200 | |
Hypercalcemia, Infantile, 1 | Lethargy | OMIM:143880 | |
Infantile Liver Failure Syndrome 2 | Lethargy | OMIM:616483 | |
Methylcobalamin Deficiency Type Cble | Drowsiness, Loss of consciousness, Excessive daytime somnolence, Lethargy | ORPHA:2169 | |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile | Lethargy | OMIM:600649 | |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency | Coma, Lethargy | OMIM:251000 | |
Meningococcal Meningitis | Lethargy, Drowsiness, Reduced consciousness/confusion | ORPHA:33475 | |
Ogden Syndrome | Torticollis, Shuffling gait, Excessive daytime somnolence, Lethargy | ORPHA:276432 | |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 | Dystonia, Ataxia, Lethargy | OMIM:618321 | |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency | Lethargy | ORPHA:2089 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Lethargy | OMIM:611590 | |
Hyperinsulinism Due To Hnf4A Deficiency | Coma, Drowsiness, Lethargy | ORPHA:263455 | |
Fructose-1,6-Bisphosphatase Deficiency | Coma, Lethargy | OMIM:229700 | |
Methylmalonic Aciduria And Homocystinuria, Cbld Type | Dystonia, Spastic ataxia, Lethargy | OMIM:277410 | |
Methylmalonic Aciduria And Homocystinuria, Cblj Type | Lethargy | OMIM:614857 | |
Propionic Acidemia | Dystonia, Coma, Lethargy | OMIM:606054 | |
Scrub Typhus | Lethargy, Reduced consciousness/confusion | ORPHA:83317 | |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To | Lethargy | OMIM:615751 | |
Spinocerebellar Ataxia, X-Linked 3 | Dysmetria, Lethargy | OMIM:301790 | |
Familial Thyroid Dyshormonogenesis | Lethargy | ORPHA:95716 | |
Holocarboxylase Synthetase Deficiency | Coma, Lethargy | OMIM:253270 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Athetosis, Torticollis, Limb dystonia, Oculogyric crisis, Blepharospasm, Lethargy | OMIM:608643 | |
Pseudo-Torch Syndrome 2 | Lethargy | OMIM:617397 | |
Visceral Steatosis, Congenital | Coma, Neonatal death, Lethargy | OMIM:228100 | |
Combined Oxidative Phosphorylation Deficiency 11 | Lethargy | OMIM:614922 | |
Dengue Fever | Lethargy | ORPHA:99828 | |
Carnitine-Acylcarnitine Translocase Deficiency | Coma, Lethargy | OMIM:212138 | |
Staphylococcal Necrotizing Pneumonia | Confusion, Lethargy | ORPHA:36238 | |
Methylmalonic Aciduria, Cblb Type | Coma, Lethargy | OMIM:251110 | |
Medulloblastoma | Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Progressive cerebellar ataxia, Ata... | ORPHA:616 | |
Transcobalamin Ii Deficiency | Ataxia, Lethargy | OMIM:275350 | |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of | Lethargy | OMIM:201475 | |
Mitochondrial Trifunctional Protein Deficiency | Coma, Tip-toe gait, Lethargy | ORPHA:746 | |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency | Coma, Lethargy | OMIM:210210 | |
Citrullinemia, Classic | Ataxia, Coma, Lethargy | OMIM:215700 | |
Methylmalonic Aciduria, Cbla Type | Coma, Lethargy | OMIM:251100 | |
Carnitine-Acylcarnitine Translocase Deficiency | Coma, Lethargy | ORPHA:159 | |
Encephalitis Lethargica | Coma, Lethargy | ORPHA:83600 | |
Resistance To Thyrotropin-Releasing Hormone Syndrome | Lethargy | ORPHA:99832 | |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency | Confusion, Lethargy | ORPHA:71212 | |
Kufor-Rakeb Syndrome | Confusion, Gait disturbance, Lingual dystonia, Bradykinesia, Oculogyric crisis, Blepharospasm, Di... | ORPHA:306674 | |
Symptomatic Form Of Hemochromatosis Type 1 | Lethargy | ORPHA:465508 | |
Mitochondrial Trifunctional Protein Deficiency | Lethargy | OMIM:609015 | |
Necrotizing Enterocolitis | Lethargy | ORPHA:391673 | |
Methylmalonic Aciduria And Homocystinuria, Cblc Type | Delirium, Confusion, Lethargy | OMIM:277400 | |
3-Hydroxy-3-Methylglutaric Aciduria | Ataxia, Hypoglycemic coma, Coma, Lethargy | ORPHA:20 | |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency | Gait disturbance, Ataxia, Lethargy | ORPHA:395 | |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal | Lethargy | OMIM:608836 | |
Trichinellosis | Lethargy, Confusion, Excessive daytime somnolence, Reduced consciousness/confusion | ORPHA:863 | |
Methylmalonic Aciduria And Homocystinuria, Cblf Type | Lethargy | OMIM:277380 | |
Biotinidase Deficiency | Ataxia, Lethargy | OMIM:253260 | |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | Spastic gait, Progressive cerebellar ataxia, Coma, Confusion, Lethargy | ORPHA:415 | |
Genetic Transient Congenital Hypothyroidism | Lethargy | ORPHA:226316 | |
Argininosuccinic Aciduria | Ataxia, Coma, Lethargy | OMIM:207900 | |
Familial Hypoaldosteronism | Lethargy | ORPHA:427 | |
Cholera | Loss of consciousness, Lethargy | ORPHA:173 | |
Ebola Hemorrhagic Fever | Lethargy | ORPHA:319218 | |
Methylmalonic Acidemia With Homocystinuria Type Cblf | Lethargy | ORPHA:79284 | |
Autosomal Dominant Progressive External Ophthalmoplegia | Gait disturbance, Bradykinesia, Ataxia, Gait ataxia, Lethargy | ORPHA:254892 | |
Amoebiasis Due To Free-Living Amoebae | Ataxia, Coma, Loss of consciousness, Confusion, Lethargy | ORPHA:68 | |
Hereditary Fructose Intolerance | Coma, Lethargy | ORPHA:469 | |
Hypothyroidism Due To Tsh Receptor Mutations | Lethargy | ORPHA:90673 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Lethargy | ORPHA:26793 | |
Sim1-Related Prader-Willi-Like Syndrome | Lethargy | ORPHA:398079 | |
Isolated Thyroid-Stimulating Hormone Deficiency | Attention deficit hyperactivity disorder, Lethargy | ORPHA:90674 | |
Glycine Encephalopathy | Lethargy | ORPHA:407 | |
Biotinidase Deficiency | Ataxia, Lethargy | ORPHA:79241 | |
Isolated Complex I Deficiency | Ataxia, Lethargy | ORPHA:2609 | |
Magel2-Related Prader-Willi-Like Syndrome | Lethargy | ORPHA:398069 | |
Posterior Urethral Valve | Lethargy | ORPHA:93110 | |
Pineoblastoma | Lethargy, Reduced consciousness/confusion | ORPHA:251909 | |
Methylmalonic Acidemia With Homocystinuria, Type Cblc | Ataxia, Delirium, Lethargy | ORPHA:79282 | |
Late-Onset Isolated Acth Deficiency | Lethargy | ORPHA:199299 | |
Histiocytoid Cardiomyopathy | Drowsiness, Loss of consciousness, Lethargy | ORPHA:137675 | |
Complete Atrioventricular Septal Defect | Lethargy | ORPHA:1329 | |
Mitochondrial Complex I Deficiency, Nuclear Type 1 | Ataxia, Coma, Lethargy | OMIM:252010 | |
Exercise-Induced Malignant Hyperthermia | Ataxia, Delirium, Confusion, Lethargy | ORPHA:466650 | |
Hydranencephaly | Lethargy | ORPHA:2177 | |
Marburg Hemorrhagic Fever | Coma, Drowsiness, Confusion, Lethargy | ORPHA:99826 | |
Semilobar Holoprosencephaly | Inability to walk, Attention deficit hyperactivity disorder, Limb dystonia, Lethargy | ORPHA:220386 | |
Alobar Holoprosencephaly | Inability to walk, Attention deficit hyperactivity disorder, Limb dystonia, Lethargy | ORPHA:93925 | |
Midline Interhemispheric Variant Of Holoprosencephaly | Inability to walk, Attention deficit hyperactivity disorder, Limb dystonia, Lethargy | ORPHA:93926 | |
Lobar Holoprosencephaly | Inability to walk, Attention deficit hyperactivity disorder, Limb dystonia, Lethargy | ORPHA:93924 | |
Fructose Intolerance, Hereditary | Coma, Lethargy | OMIM:229600 | |
Multiple Endocrine Neoplasia Type 1 | Confusion, Coma, Decreased vigilance, 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 | |
Eisenmenger Syndrome | Lethargy | ORPHA:97214 | |
Paroxysmal Nocturnal Hemoglobinuria | Lethargy | ORPHA:447 | |
Non-Specific Early-Onset Epileptic Encephalopathy | Unsteady gait, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking | ORPHA:442835 | |
Developmental And Epileptic Encephalopathy 62 | Inability to walk | OMIM:617938 | |
Epilepsy, Familial Focal, With Variable Foci 4 | OMIM:617935 |
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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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