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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
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

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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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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