Gene Summary

neuron navigator 1
POMFIL3,  C230080M11Rik,  9930003A20Rik,  steerin-1,  unc53H1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart rate Nav1em1(IMPC)Mbp HOM Early adult 1.18×10-06
decreased brain size Nav1em1(IMPC)Mbp HOM Early adult 0.00
decreased grip strength Nav1em1(IMPC)Mbp HOM   Early adult 7.27×10-05
small kidney Nav1em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Nav1em1(IMPC)Mbp HOM   Early adult 1.11×10-05
abnormal spleen morphology Nav1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Nav1em1(IMPC)Mbp HOM Early adult 0.00
prolonged RR interval Nav1em1(IMPC)Mbp HOM Early adult 1.07×10-08
increased freezing behavior Nav1em1(IMPC)Mbp HOM Early adult 1.55×10-07
preweaning lethality, incomplete penetrance Nav1em1(IMPC)Mbp HOM   Early adult 0.00
enlarged spleen Nav1em1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Nav1em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Nav1em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

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 Nav1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nav1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Anemia, Trimethylaminuria, Hypertension, Tachycardia, Depression, Neutropenia, Splenomegaly OMIM:602079
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome OMIM:617182
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Cln3 Disease
Aggressive behavior, Urinary bladder sphincter dysfunction, Anxiety, T-wave inversion, Left ventr... ORPHA:228346
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Hepatic steatosis, Increased urine succin... OMIM:619048
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Coproporphyria, Hereditary
Anxiety, Jaundice, Hypertension, Tachycardia, Hepatomegaly, Depression, Increased urinary porphob... OMIM:121300
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Dicarboxylic aciduria, Hepatic steatosis, Premature ventricular cont... OMIM:212138
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypospadias, Bradycardia, Micropenis OMIM:618815
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Nephrotic syndrome, Abnormal EKG, Congestiv... ORPHA:330001
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Left ventricular hypertrophy, ... OMIM:163800
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Alaninuria, Lacticaciduria, Bradycardia, Hyperglutaminuria OMIM:616299
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Arrhythmia, Dysphagia, Bradycardia, Cardiomyopathy OMIM:609286
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Hartnup Disorder
Emotional lability, Neutral hyperaminoaciduria, Attention deficit hyperactivity disorder, Hyperac... OMIM:234500
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness, Hyperglycinuria OMIM:605899
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Abnormal fear/anxiety-related behavior, Separation insecurity, Agoraphobia, Emotional lability, I... ORPHA:66624
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, Enlarged kidney, ST segment depression, Congestive heart failure, ... OMIM:261740
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Timothy Syndrome
Cardiomegaly, Prolonged QT interval, Bradycardia OMIM:601005
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Bradycardia OMIM:614702
Elevated urinary epinephrine, Hypertension, Dysphagia, Elevated urinary norepinephrine, Bradycard... ORPHA:3299
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia ORPHA:95717
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Hyperactivity, Aggressive behavior, Irritability, Increased level of hippuric acid in urine, Atte... OMIM:261600
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Depression, Anxiety, Bradycardia, Oral-pharyngeal dysphagia ORPHA:221098
Gaucher Disease Type 2
Cardiac arrest, Splenomegaly, Hepatomegaly, Dysphagia ORPHA:77260
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Ascites, Hepatomegaly, Abnormal renal corticomedullary differentiation, Thro... OMIM:617397
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... ORPHA:439232
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Tachycardia, Prolonged QT interval, Hepatomegaly, Dysphagia, Bradycardia, Sple... OMIM:613327
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Hypertension, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria,... OMIM:105200
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Sepsis In Premature Infants
Hypotension, Anemia, Jaundice, Tachycardia, Oliguria, Hepatomegaly, Leukocytosis, Reversible rena... ORPHA:90051
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Abnormal left ventricular function, Subdural hemorrhage, Hepatomegal... ORPHA:99827
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Hemochromatosis, Type 2A
Cirrhosis, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Arrhythmia, Splenomega... OMIM:602390
Neuroleptic Malignant Syndrome
Hypotension, Urinary incontinence, Pulmonary embolism, Anxiety, Acute kidney injury, Hypertension... ORPHA:94093
Lujo Hemorrhagic Fever
Hypotension, Leukopenia, Myocarditis, Renal insufficiency, Fulminant hepatitis, Anxiety, Lymphope... ORPHA:319213
Leukopenia, Renal insufficiency, Hemolytic anemia, Jaundice, Congestive heart failure, Myocardial... ORPHA:108
Necrotizing Enterocolitis
Hypotension, Peritonitis, Shock, Leukocytosis, Ascites, Thrombocytopenia, Neutropenia, Bradycardia ORPHA:391673
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block, Hypoplasia of the thymus ORPHA:40366
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... OMIM:619827
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Splenomegaly OMIM:607685
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Bradycardia ORPHA:226313
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Bradycardia ORPHA:95716
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Congestive heart failure, Hepatomegaly, Splenomegaly, Cardio... OMIM:613313
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Hypospadias, Bradycardia OMIM:619272
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Thrombocytopenia, Bradycardia, Choleli... OMIM:618775
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Sp... OMIM:252920
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Partial development of the penile shaft OMIM:608800
Pediatric-Onset Graves Disease
Hyperactivity, Sinus tachycardia, Neutropenia in presence of anti-neutropil antibodies, Jaundice,... ORPHA:525731
D-Glyceric Aciduria
Aminoaciduria, Bradycardia, Micropenis OMIM:220120
Neonatal Lupus Erythematosus
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytop... ORPHA:398124
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Autoimmune hemolytic anemia, Abnormal urinary color, Tachycardia, Splen... ORPHA:90037
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Aggressive behavior, Facial telangiectasia, Impulsivity, Attention deficit hyperac... OMIM:620141
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Autoimmune Hemolytic Anemia
Hemolytic anemia, Congestive heart failure, Abnormal urinary color, Arrhythmia, Abnormal leukocyt... ORPHA:98375
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Illum Syndrome
Bradycardia OMIM:208155
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Thrombocytopenia, I... ORPHA:848
Polycythemia Vera
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... OMIM:263300
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Prolonged neonatal jaundice, Attention deficit hyperactivity disorder, Depression ORPHA:90674
Graves Disease, Susceptibility To, 1
Hyperactivity, Congestive heart failure, Abnormal abdomen morphology, Polyphagia, Irritability OMIM:275000
Mcleod Syndrome
Splenomegaly, Anxiety, Dilated cardiomyopathy, Hepatomegaly, Depression, Personality disorder, At... OMIM:300842
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... OMIM:263200
Abnormal Hair, Joint Laxity, And Developmental Delay
Aggressive behavior, Impulsivity, Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Nephronophthisis 19
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... OMIM:616217
Acquired Methemoglobinemia
Anxiety, Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia ORPHA:464453
Marburg Hemorrhagic Fever
Hypotension, Leukopenia, Aggressive behavior, Renal insufficiency, Hypovolemia, Jaundice, Reticul... ORPHA:99826
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Anemia, Reduced left ventricular ejection fract... ORPHA:563
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Autoimmune hemolytic anemia, Abno... ORPHA:90033
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... OMIM:603909
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... ORPHA:846
Hemochromatosis, Type 1
Cirrhosis, Telangiectasia, Hepatocellular carcinoma, Congestive heart failure, Hepatomegaly, Arrh... OMIM:235200
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Tricuspid regurgitation OMIM:616589
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Erythrocytosis, Familial, 1
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... OMIM:133100
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Splenomegaly, Congestive heart failure, Hepatomegaly, Ascites, P... ORPHA:2414
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Epistaxis, Leukocytosis, Extramedulla... OMIM:612840
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen... OMIM:208540
Encephalitis Lethargica
Urinary incontinence, Bradycardia ORPHA:83600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaconic aciduria, Neonatal death, Jaundice, Dysphagia, 3-Methylglutaric aciduria, Neut... OMIM:617248
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Cardiomegaly, Abnormal EKG, Elevated jugu... ORPHA:2041
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Proximal Spinal Muscular Atrophy
Bradycardia, Dysphagia ORPHA:70
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Dilated cardiomyopathy OMIM:610768
Yellow Fever
Anuria, Renal insufficiency, Pancreatic hyperplasia, Reduced left ventricular ejection fraction, ... ORPHA:99829
Sheehan Syndrome
Hyposthenuria, Palpitations, Orthostatic hypotension, Bradycardia, Normochromic anemia ORPHA:91355
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Heparan sulfate excreti... OMIM:252900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... OMIM:314050
Autoimmune Hepatitis
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Anxiety, Sclerosing cholangitis, Diffuse hepat... ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... OMIM:616278
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Bohring-Opitz Syndrome
Urinary retention, Happy demeanor, Annular pancreas, Cardiomegaly, Bradycardia, Cholelithiasis ORPHA:97297
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Epistaxis, Thrombocytopenia,... OMIM:619463
Fish-Eye Disease
Lymphadenopathy, Angina pectoris, Splenomegaly, Hepatomegaly ORPHA:79292
American Trypanosomiasis
Congestive heart failure, Lymphadenopathy, Hepatomegaly, Arrhythmia, Myocarditis, Splenomegaly, C... ORPHA:3386
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Legionnaires Disease
Hypotension, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Pericarditis, Lymphadenop... ORPHA:549
Porphyria, Acute Intermittent
Urinary incontinence, Urinary retention, Dysuria, Hepatocellular carcinoma, Hypertension, Depress... OMIM:176000
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st... OMIM:617394
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia OMIM:614653
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Cardiomegal... ORPHA:1329
Beta-Thalassemia Intermedia
Cholelithiasis, Pulmonary arterial hypertension, Cirrhosis, Proximal tubulopathy, Abnormality of ... ORPHA:231222
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Hepatocellular carcin... ORPHA:231226
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Bradycardia ORPHA:90673
Stiff-Person Syndrome
Anemia, Hypertension, Depression, Anxiety, Agoraphobia, Tachycardia OMIM:184850
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Asymmetric septal hypertrophy, Hepatomegaly, Dysphagia, Splenomegaly, Heparan sulf... OMIM:252930
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Hemat... OMIM:603903
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Multicystic kidney dysplasia, Urinary retention, Dysuria, Hydroureter, Renal tubular epit... ORPHA:79404
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Hepatocell... ORPHA:231214
Gaucher Disease, Type I
Pulmonary arterial hypertension, Anemia, Hypersplenism, Hypertension, Pancytopenia, Epistaxis, Mi... OMIM:230800
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia, Hepatomegaly, Increased urinary glycerol OMIM:229700
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Hypertension, Attention deficit hype... ORPHA:449291
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Abnor... ORPHA:464329
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati... ORPHA:98849
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Glycogen Storage Disease Ii
Urinary incontinence, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Sh... OMIM:232300
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... ORPHA:137675
Polycythemia Vera
Pulmonary embolism, Intermittent claudication, Angina pectoris, Hypertension, Epistaxis, Portal v... ORPHA:729
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... ORPHA:100026
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Hepatitis, Jaundice, Acholic stools, Hepatic bridging fibrosis, Intrahepatic cholestas... OMIM:613812
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Pol... ORPHA:53035
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertensio... ORPHA:131
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... ORPHA:731
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... OMIM:266200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... OMIM:235700
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Hypovolemia,... ORPHA:90041
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma... ORPHA:71275
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Hypertension, Focal segmental glomerulos... OMIM:232220
Hyperactivity, Portal fibrosis, Oroticaciduria, Diaminoaciduria, Micronodular cirrhosis, Cholesta... OMIM:207800
Familial Mediterranean Fever
Splenomegaly, Nephrotic syndrome, Ascites, Pericarditis, Myocardial infarction, Lymphadenopathy, ... ORPHA:342
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... OMIM:300908
Tuberous Sclerosis Complex
Hyperactivity, Aggressive behavior, Self-injurious behavior, Renal angiomyolipoma, Stage 5 chroni... ORPHA:805
Overhydrated Hereditary Stomatocytosis
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Carney Triad
Anemia, Hypertension, Lymphadenopathy, Mediastinal lymphadenopathy, Arrhythmia, Gastrointestinal ... ORPHA:139411
Tyrosinemia, Type I
Cirrhosis, Anemia, Enlarged kidney, Ascites, Hepatocellular carcinoma, Glomerular sclerosis, Hype... OMIM:276700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Prolonged neonatal jaundice, Bradycardia ORPHA:226307
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Angina pectoris, Low-output congestive heart failure, Palpitations, Hepatomegaly, A... ORPHA:565612
Primary Sclerosing Cholangitis
Spider hemangioma, Cholangiocarcinoma, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly... ORPHA:171
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Paragangliomas 4
Elevated urinary catecholamines, Hypertension associated with pheochromocytoma, Episodic paroxysm... OMIM:115310
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Sinus bradycardia, Dysphagia OMIM:619482
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020


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 Nav1

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 Nav1.

No publications found that use IMPC mice or data for Nav1.

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MGI Allele Allele Type Produced
Nav1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nav1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Nav1em1(IMPC)Mbp Exon Deletion Mice

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