Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sodium channel, voltage-gated, type III, alpha
Synonyms:
LOC381367,  Nav1.3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Scn3a 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 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

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.

There is no histopathology data for Scn3a

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 Scn3a.

No publications found that use IMPC mice or data for Scn3a.

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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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