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Gene: Scn3a MGI:98249

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 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
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Bradykinesia OMIM:618683
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy OMIM:606777
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
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
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
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Glycine Encephalopathy 1
Lethargy OMIM:605899
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Neonatal death OMIM:610498
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Neonatal death OMIM:618232
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
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Central Diabetes Insipidus
Lethargy, Depression ORPHA:178029
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia ORPHA:101150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy OMIM:613561
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy ORPHA:276608
Hemochromatosis, Type 2A
Lethargy OMIM:602390
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
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Cyclic Vomiting Syndrome
Lethargy OMIM:500007
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy ORPHA:49827
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy OMIM:618226
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy ORPHA:276556
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy ORPHA:289916
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy ORPHA:276575
Evans Syndrome
Lethargy ORPHA:1959
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy ORPHA:276580
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Isovaleric Acidemia
Lethargy OMIM:243500
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy ORPHA:324575
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy ORPHA:79312
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Classic Galactosemia
Lethargy, Depression ORPHA:79239
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Lethargy OMIM:250940
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy ORPHA:27
Citrullinemia Type I
Lethargy ORPHA:247525
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy OMIM:611590
Typhoid
Lethargy ORPHA:99745
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy ORPHA:927
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Stillbirth, Neonatal death OMIM:614922
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Carnitine Deficiency, Systemic Primary
Lethargy OMIM:212140
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:42
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Neonatal death OMIM:605711
Isolated Atp Synthase Deficiency
Lethargy ORPHA:254913
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
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
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Propionic Acidemia
Lethargy OMIM:606054
Holocarboxylase Synthetase Deficiency
Lethargy ORPHA:79242
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy OMIM:604377
Maple Syrup Urine Disease, Type Ia
Lethargy OMIM:248600
Insulinoma
Lethargy ORPHA:97279
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy OMIM:210200
Scrub Typhus
Lethargy ORPHA:83317
N-Acetylglutamate Synthase Deficiency
Lethargy OMIM:237310
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
Dengue Fever
Lethargy ORPHA:99828
Meningococcal Meningitis
Lethargy ORPHA:33475
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Pseudo-Torch Syndrome 2
Lethargy OMIM:617397
Ogden Syndrome
Lethargy ORPHA:276432
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy ORPHA:263455
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy OMIM:251000
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Staphylococcal Necrotizing Pneumonia
Lethargy ORPHA:36238
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy ORPHA:465508
Cirrhosis, Familial
Lethargy OMIM:215600
Congenital Disorder Of Glycosylation, Type Ig
Lethargy OMIM:607143
Basal Ganglia Disease, Biotin-Thiamine Responsive
Lethargy OMIM:607483
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy OMIM:609015
Citrullinemia Type Ii
Lethargy, Mania ORPHA:247585
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy OMIM:201100
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy OMIM:608836
Necrotizing Enterocolitis
Lethargy ORPHA:391673
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy OMIM:618321
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Renal Hypoplasia, Bilateral
Lethargy ORPHA:97362
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy OMIM:620306
Autosomal Dominant Progressive External Ophthalmoplegia
Lethargy, Bradykinesia, Depression, Bipolar affective disorder ORPHA:254892
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26793
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Apathy ORPHA:20
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy ORPHA:79284
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy OMIM:277380
Methylmalonic Aciduria, Cblb Type
Lethargy OMIM:251110
Encephalitis Lethargica
Lethargy ORPHA:83600
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:71212
Mitochondrial Trifunctional Protein Deficiency
Lethargy ORPHA:746
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy OMIM:608643
Familial Hypoaldosteronism
Lethargy ORPHA:427
Methylmalonic Aciduria, Cbla Type
Lethargy OMIM:251100
Glycine Encephalopathy
Lethargy ORPHA:407
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy OMIM:210210
Sim1-Related Prader-Willi-Like Syndrome
Lethargy ORPHA:398079
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy OMIM:620233
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Biotinidase Deficiency
Lethargy OMIM:253260
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Depression ORPHA:90674
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Magel2-Related Prader-Willi-Like Syndrome
Lethargy ORPHA:398069
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy ORPHA:395
Medulloblastoma
Lethargy ORPHA:616
Late-Onset Isolated Acth Deficiency
Lethargy ORPHA:199299
Cholera
Lethargy ORPHA:173
Posterior Urethral Valve
Lethargy ORPHA:93110
Trichinellosis
Lethargy, Apathy ORPHA:863
Peroxisome Biogenesis Disorder 5A (Zellweger)
Lethargy OMIM:614866
Citrullinemia, Classic
Lethargy OMIM:215700
Isolated Complex I Deficiency
Lethargy ORPHA:2609
Biotinidase Deficiency
Lethargy ORPHA:79241
Multiple Mitochondrial Dysfunctions Syndrome 7
Lethargy OMIM:620423
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy OMIM:311250
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Complete Atrioventricular Septal Defect
Lethargy ORPHA:1329
Argininosuccinic Aciduria
Lethargy OMIM:207900
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy ORPHA:79282
Kufor-Rakeb Syndrome
Lethargy, Bradykinesia, Apathy ORPHA:306674
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy OMIM:252010
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy OMIM:617156
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy ORPHA:415
Pearson Marrow-Pancreas Syndrome
Lethargy OMIM:557000
Amoebiasis Due To Free-Living Amoebae
Lethargy ORPHA:68
Hydranencephaly
Lethargy ORPHA:2177
Histiocytoid Cardiomyopathy
Lethargy ORPHA:137675
Pineoblastoma
Lethargy ORPHA:251909
Semilobar Holoprosencephaly
Depression, Lethargy, Apathy ORPHA:220386
Alobar Holoprosencephaly
Depression, Lethargy, Apathy ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Lethargy, Apathy ORPHA:93926
Lobar Holoprosencephaly
Depression, Lethargy, Apathy ORPHA:93924
Glycerol Kinase Deficiency
Lethargy OMIM:307030
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

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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