Not currently registered for phenotyping at IMPC

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

Gene Summary

sodium channel, nonvoltage-gated 1 alpha
ENaC alpha,  Scnn1,  mENaC

IMPC Data Collections

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

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.

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 Scnn1a 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 Scnn1a by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Idiopathic Bronchiectasis
Dyspnea ORPHA:60033
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Liddle Syndrome 3
Generalized Pseudohypoaldosteronism Type 1
Brugada Syndrome
Liddle Syndrome
Bronchiectasis With Or Without Elevated Sweat Chloride 2

The table below shows human diseases predicted to be associated to Scnn1a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Perching Syndrome
Cyanosis, Dysphagia, Respiratory distress OMIM:617055
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Developmental And Epileptic Encephalopathy 30
Death in infancy, Motor stereotypy, Respiratory distress OMIM:616341
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Muscular Hypertonia, Lethal
Death in infancy, Respiratory distress OMIM:254120
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Death in adolescence, Neonatal death, Dysphagia OMIM:619751
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation ORPHA:91359
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Respiratory distress OMIM:619099
High Altitude Pulmonary Edema
Anorexia, Dyspnea, Orthopnea, Hypoxemia, Tachypnea, Cyanosis ORPHA:330012
Laryngotracheoesophageal Cleft
Choking episodes, Impaired oropharyngeal swallow response, Dyspnea, Cyanosis ORPHA:2004
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Ataxia, Lethargy, Choreoathetosis, Central apnea ORPHA:71277
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Neuromuscular dysphagia, Respiratory distress ORPHA:240085
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Respi... OMIM:254210
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cyanosis, Respiratory distress OMIM:263000
Succinic Acidemia
Respiratory distress OMIM:600335
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Respiratory distress ORPHA:141152
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Respi... OMIM:605809
Gaucher Disease Type 2
Abnormal pattern of respiration, Dysphagia, Respiratory distress ORPHA:77260
Laryngeal Abductor Paralysis
Cyanosis, Dysphagia OMIM:150260
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Cryptogenic Organizing Pneumonia
Anorexia, Respiratory distress, Dyspnea, Hypoxemia, Cyanosis ORPHA:1302
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Breath-Holding Spells
Cyanosis OMIM:607578
Surfactant Metabolism Dysfunction, Pulmonary, 1
Dyspnea, Death in infancy, Apnea, Neonatal death, Tachypnea, Cyanosis OMIM:265120
Choanal Atresia
Choking episodes, Cyanosis, Respiratory distress ORPHA:137914
Gait imbalance, Respiratory distress ORPHA:673
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Inability to walk, Respiratory distress OMIM:617977
Hereditary Methemoglobinemia
Exertional dyspnea, Athetosis, Cyanosis ORPHA:621
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Tongue thrusting, Recurrent hand flapping, Impulsivity, Gait ataxia, Apnea, At... OMIM:619580
Pleural Mesothelioma
Dyspnea, Dysphagia, Respiratory distress ORPHA:50251
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Respiratory distress OMIM:267450
Myopathy And Diabetes Mellitus
Tip-toe gait, Progressive cerebellar ataxia, Inability to walk, Respiratory distress ORPHA:2596
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Dysphagia, Respiratory distress OMIM:613561
Severe Acute Respiratory Syndrome
Hypoxemia, Dyspnea, Respiratory distress ORPHA:140896
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Dysphagia, Respiratory distress ORPHA:240103
Immunodeficiency 95
Respiratory distress OMIM:619773
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Respiratory distress ORPHA:26792
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Tachypnea, Cyanosis, Nasal flaring ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Hypoxemia, Apnea, Neonatal d... OMIM:610921
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress ORPHA:1832
Respiratory distress OMIM:150280
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Congenital Pulmonary Lymphangiectasia
Cyanosis, Respiratory distress ORPHA:2414
Holocarboxylase Synthetase Deficiency
Anorexia, Respiratory distress, Ataxia, Tachypnea, Lethargy ORPHA:79242
Recurrent Respiratory Papillomatosis
Respiratory distress, Dyspnea, Choking episodes, Dysphagia, Tachypnea ORPHA:60032
Congenital Myopathy 10A, Severe Variant
Dysphagia, Respiratory distress OMIM:614399
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Respiratory distress ORPHA:100057
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Bronchopulmonary Dysplasia
Hyperoxemia, Dyspnea, Central apnea, Respiratory distress ORPHA:70589
N-Acetylglutamate Synthase Deficiency
Anorexia, Respiratory distress, Tachypnea, Lethargy, Aggressive behavior OMIM:237310
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Choreoathetosis, Lethargy, Respiratory distress ORPHA:79312
Acute Lung Injury
Respiratory distress, Dyspnea, Hypoxemia, Addictive alcohol use, Tachypnea ORPHA:178320
Folinic Acid-Responsive Seizures
Difficulty walking, Broad-based gait, Respiratory distress, Apnea, Ataxia ORPHA:79097
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Dysphagia, Gait disturbance, Respiratory distress ORPHA:98805
Combined Oxidative Phosphorylation Deficiency 30
Death in infancy, Respiratory distress OMIM:616974
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Ataxia, Death in infancy OMIM:602473
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Difficulty walking, Dysphagia, Respiratory distress ORPHA:254875
Nipah Virus Disease
Anorexia, Respiratory distress ORPHA:99825
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis, Dyspnea OMIM:610910
Congenital Myasthenic Syndrome
Tip-toe gait, Difficulty walking, Sudden episodic apnea, Waddling gait, Apneic episodes precipita... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Tip-toe gait, Difficulty walking, Sudden episodic apnea, Waddling gait, Apneic episodes precipita... ORPHA:98914
Thyroid Lymphoma
Dyspnea, Dysphagia, Respiratory distress ORPHA:97285
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress OMIM:300580
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Hsd10 Disease, Infantile Type
Loss of ambulation, Dysphagia, Restlessness, Choreoathetosis, Cyanosis, Paroxysmal bursts of laug... ORPHA:391428
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Difficulty walking, Dyspnea, Respiratory distress ORPHA:86812
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Neonatal death, Lethargy OMIM:618232
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Dyspnea, Hypoxemia, Addictive alcohol use, Tachypnea, Lethargy ORPHA:36238
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Asbestos Intoxication
Exertional dyspnea, Dyspnea, Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Tachypnea, Respiratory distress ORPHA:264675
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Respiratory distress, Ataxia, Motor stereotypy, Lethargy ORPHA:927
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Exertional dyspnea, Cyanosis ORPHA:98913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Loss of ambulation, Dysphagia, Respiratory distress OMIM:620375
Dravet Syndrome
Obsessive-compulsive trait, Bradykinesia, Cyanotic episode, Impulsivity, Progressive gait ataxia ORPHA:33069
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Lethargy OMIM:614299
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Respiratory distress OMIM:612075
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Gait imbalance, Respiratory distress, Truncal atax... OMIM:211530
Hypoxemia, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Chiari Malformation Type Ii
Cyanosis, Ataxia, Dysphagia OMIM:207950
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Lethargy, Respiratory distress ORPHA:289916
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Lethargy, Gait disturbance, Respiratory distress OMIM:250940
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Muscular Dystrophy, Congenital, With Or Without Seizures
Loss of ambulation, Ataxia, Dysphagia, Respiratory distress OMIM:620166
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Difficulty walking, Respiratory distress, Broad-based gait, Hypoxemia, Ataxia, Tachypnea, Choreoa... OMIM:610978
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress OMIM:615042
Primary Pulmonary Hypoplasia
Hypoxemia, Tachypnea, Apnea, Cyanosis ORPHA:2257
Cardiomyopathy, Dilated, 2H
Tachypnea, Neonatal death OMIM:620203
Familial Nasal Acilia
Dyspnea, Respiratory distress ORPHA:922
Tricuspid Atresia
Cyanosis ORPHA:1209
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Respiratory distress, Death in infancy, Apnea, Ataxia, Cyanosis, Hypopnea OMIM:618426
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Exertional dyspnea, Acrocyanosis ORPHA:2032
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Gait imbalance, Gait disturbance, Dysphagia, Cyanosis, Aggressive behavior ORPHA:488627
X-Linked Centronuclear Myopathy
Inability to walk, Respiratory distress ORPHA:596
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress OMIM:615597
Ethylmalonic Encephalopathy
Petechiae, Ataxia, Acrocyanosis ORPHA:51188
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Anaplastic Thyroid Carcinoma
Dyspnea, Dysphagia, Respiratory distress ORPHA:142
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Episodic Ataxia Type 1
Tip-toe gait, Choreoathetosis, Respiratory distress ORPHA:37612
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Lethargy, Death in infancy, Respiratory distress OMIM:604377
Myotonic Dystrophy 1
Obsessive-compulsive trait, Dysphagia, Respiratory distress OMIM:160900
Respiratory distress ORPHA:66637
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Respiratory distress OMIM:620011
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Dyspnea ORPHA:747
Acute Interstitial Pneumonia
Hypoxemia, Tachypnea, Cyanosis, Dyspnea ORPHA:79126
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Ataxia, Respiratory distress OMIM:608799
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Dyspnea ORPHA:439
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Cyanosis ORPHA:444013
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Respiratory distress ORPHA:89844
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Dyspnea, Hypoxemia, Tachypnea, Cyanosis OMIM:610913
Moebius Syndrome
Dysdiadochokinesis, Dysphagia, Gait disturbance, Respiratory distress OMIM:157900
Death in infancy, Respiratory distress ORPHA:166272
Oromandibular Dystonia
Bruxism, Dysphagia, Respiratory distress ORPHA:93958
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Lethargy, Sudden episodic apnea ORPHA:159
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Neonatal death, Respiratory distress OMIM:300219
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Difficulty walking, Cyanosis OMIM:617239
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Impulsivity, Apnea, Cyanosis, Lethargy OMIM:620423
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis ORPHA:199241
Alfadhel Syndrome
Nasal flaring, Aggressive behavior OMIM:620655
Isolated Atp Synthase Deficiency
Ataxia, Lethargy, Respiratory distress ORPHA:254913
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Gaucher Disease, Perinatal Lethal
Purpura, Akinesia, Respiratory distress, Petechiae, Apnea, Neonatal death, Dysphagia OMIM:608013
Avian Influenza
Respiratory distress, Miscarriage, Dyspnea, Hypoxemia, Tachypnea ORPHA:454836
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Necrotizing Enterocolitis
Apnea, Lethargy, Cyanosis ORPHA:391673
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Carnitine Deficiency, Systemic Primary
Lethargy, Respiratory distress OMIM:212140
Tachypnea, Dysphagia, Respiratory distress ORPHA:3299
Mercury Poisoning
Anorexia, Dyspnea, Respiratory distress ORPHA:330021
Ethylene Glycol Poisoning
Cyanosis, Addictive alcohol use, Ataxia, Abnormal pattern of respiration, Tachypnea, Episodic res... ORPHA:31826
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Attention deficit hyperactivity disorder, Gait ataxia, Inability to walk, Respiratory distress OMIM:619383
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress ORPHA:411703
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Acrocyanosis OMIM:614407
Congenital Heart Block
Cyanosis ORPHA:60041
Meconium Aspiration Syndrome
Hypoxemia, Respiratory distress ORPHA:70588
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Restlessness, Respiratory distress ORPHA:544503
Triosephosphate Isomerase Deficiency
Jaundice, Respiratory distress, Death in adolescence, Death in infancy, Prolonged neonatal jaundi... OMIM:615512
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Respiratory distress, Impulsivity, Apnea, Ataxia, Dysphagia,... ORPHA:2131
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis ORPHA:860
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dysphagia, Dermatographic urticaria ORPHA:100050
Sepsis In Premature Infants
Purpura, Jaundice, Petechiae, Dyspnea, Nasal flaring, Cyanosis ORPHA:90051
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis ORPHA:335
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Urticaria, Ataxia, Acrocyanosis, Erythema ORPHA:343
Aicardi-Goutieres Syndrome 1
Purpura, Inability to walk, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation... OMIM:225750
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Respiratory distress ORPHA:370924
Complete Atrioventricular Septal Defect
Tachypnea, Cyanosis, Lethargy, Intercostal retractions ORPHA:1329
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress ORPHA:2759
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Respiratory distress ORPHA:226313
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Death in childhood, Respiratory distress, Truncal ataxia, Ataxia OMIM:220110
Tetrasomy 5P
Cyanosis, Respiratory distress ORPHA:3309
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Respiratory distress, Tachypnea, Lethargy, Episodic tachypnea ORPHA:26793
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Dyspnea, Telangiectasia ORPHA:2038
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi... ORPHA:348
Brain-Lung-Thyroid Syndrome
Respiratory distress, Hyperactivity, Falls, Compulsive behaviors, Abnormal drinking behavior, Ata... ORPHA:209905
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Neonatal death, Respiratory distress OMIM:231680
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Respiratory distress, Waddling gait, Dysphagia ORPHA:98915
Odontochondrodysplasia 1
Death in infancy, Respiratory distress OMIM:184260
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Palmoplantar cutis laxa, Neonatal death, Central apnea, Respiratory distress OMIM:616482
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress ORPHA:1145
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Myasthenia Gravis
Dyspnea, Dysphagia, Acrocyanosis ORPHA:589
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Tachypnea, Cyanosis ORPHA:555874
Chitayat Syndrome
Respiratory distress OMIM:617180
Respiratory distress ORPHA:3392
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Death in childhood, Dysphagia, Respiratory distress OMIM:620278
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Respiratory distress OMIM:251000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Jaundice, Lethargy, Respiratory distress OMIM:617156
Biotinidase Deficiency
Respiratory distress, Apnea, Ataxia, Lethargy, Hyperventilation ORPHA:79241
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Cardiogenic Shock
Orthopnea, Hypoxemia, Cyanosis, Dyspnea ORPHA:97292
Ciliary Dyskinesia, Primary, 2
Respiratory distress OMIM:606763
Esophageal Atresia
Respiratory distress, Episodic respiratory distress, Dysphagia, Oral aversion, Cyanosis ORPHA:1199
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Eosinophilic Granulomatosis With Polyangiitis
Purpura, Gait disturbance, Urticaria, Cutis marmorata, Dysphagia, Acrocyanosis ORPHA:183
Atrial Septal Defect, Ostium Primum Type
Tachypnea, Exertional dyspnea, Dyspnea, Cyanosis ORPHA:99106
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Ataxia, Cyanosis, Lethargy OMIM:252010
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Respiratory distress ORPHA:438216
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Generalized abnormality of skin, Respiratory distress ORPHA:367
Kniest Dysplasia
Gait disturbance, Respiratory distress OMIM:156550
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Apnea, Respiratory distress ORPHA:314655
Craniofaciofrontodigital Syndrome
Premature skin wrinkling, Respiratory distress, Dyspnea, Palmoplantar cutis laxa, Prominent super... ORPHA:363705
Nasolacrimal Duct Cyst
Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions ORPHA:141083
Pulmonary Alveolar Microlithiasis
Exertional dyspnea, Dyspnea, Hypoxemia, Tachypnea, Cyanosis, Oxygen desaturation on exertion ORPHA:60025
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Jaundice, Respiratory distress OMIM:274150
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Respiratory distress OMIM:151210
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Oculopharyngodistal Myopathy 1
Difficulty walking, Respiratory distress, Ataxia, Dysphagia, Hypercapnia OMIM:164310
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Inability to walk, Respiratory distress OMIM:617303
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Respiratory distress OMIM:607143
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress ORPHA:2707
Agnathia-Otocephaly Complex
Respiratory distress OMIM:202650
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress OMIM:617895
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Pitt-Hopkins Syndrome
Aggressive behavior, Gait ataxia, Ataxia, Acrocyanosis, Abnormal pattern of respiration, Self-inj... ORPHA:2896
Atrial Septal Defect, Coronary Sinus Type
Exertional dyspnea, Dyspnea, Cyanosis ORPHA:99104
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Respiratory distress OMIM:620306
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
3-Methylglutaconic Aciduria, Type Viib
Choreoathetosis, Ataxia, Respiratory distress OMIM:616271
Methylmalonic Aciduria, Cblb Type
Lethargy, Respiratory distress OMIM:251110
Glycogen Storage Disease Of Heart, Lethal Congenital
Apnea, Cyanosis, Respiratory distress OMIM:261740
Unilateral Polymicrogyria
Apnea, Cyanosis, Pseudobulbar paralysis ORPHA:268943
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress OMIM:619272
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Exertional dyspnea, Dyspnea, Cyanosis ORPHA:99103
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hypoventilation, Polyphagia, Compulsive behaviors, Self-injurious behavior, Cyanosis,... ORPHA:293987
Japanese Encephalitis
Anorexia, Respiratory distress, Abnormal pattern of respiration, Irregular respiration, Choreoath... ORPHA:79139
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Gait ataxia, Apnea, Ataxia, Dysphagia, Episodic respiratory distress, Hyperventilation ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Tarp Syndrome
Apnea, Broad-based gait, Cyanosis ORPHA:2886
Methylmalonic Aciduria, Cbla Type
Lethargy, Respiratory distress OMIM:251100
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Congenital Tracheomalacia
Apnea, Dyspnea, Intercostal retractions, Cyanosis ORPHA:95430
Antalgic gait, Ataxia, Respiratory distress ORPHA:635
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Lethargy ORPHA:137675
Criss-Cross Heart
Cyanosis ORPHA:1461
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Jaundice, Broad-based gait, Respiratory distress, Prolonged neonatal jaundice, Ataxia, Loss of am... OMIM:256810
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Respiratory distress, Head-banging, Compulsive behaviors, Skin-picking,... ORPHA:177907
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Respiratory distress, Athetosis, Impaired oral bolus formation, Impair... OMIM:615273
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia, Erythema, Respiratory distress ORPHA:537
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Respiratory distress, Polyphagia, Compulsive... ORPHA:404448
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Respiratory distress OMIM:618733
Lujo Hemorrhagic Fever
Purpura, Ecchymosis, Dysphagia, Respiratory distress ORPHA:319213
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Dyspnea, Conjunctival tel... OMIM:610655
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Hypoventilation, Apnea, Respiratory distress ORPHA:79330
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Respiratory distress OMIM:183900
Aortic Arch Interruption
Tachypnea, Exertional dyspnea, Cyanosis, Respiratory distress ORPHA:2299
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Cardiomyopathy, Familial Hypertrophic, 4
Dyspnea, Respiratory distress OMIM:115197
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Unsteady gait, Choreoathetosis, Aggressive behavior ORPHA:17
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Exertional dyspnea, Lip telangiectasia, Miscarria... OMIM:187300
Respiratory distress OMIM:608022
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Hypocapnia ORPHA:980
Vascular skin abnormality, Acrocyanosis ORPHA:349
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exertional dyspnea, Difficulty walking, Inability to walk, Respiratory distress, Orthopnea, Dysph... ORPHA:365
Arterial Tortuosity Syndrome
Prematurely aged appearance, Dyspnea, Telangiectasia of the skin, Respiratory distress ORPHA:3342
Tuberous Sclerosis Complex
Generalized abnormality of skin, Respiratory distress, Hyperactivity, Impulsivity, Repetitive com... ORPHA:805
Kasabach-Merritt Phenomenon
Petechiae, Purpura, Hypopnea, Respiratory distress ORPHA:2330
Congenital Enterovirus Infection
Respiratory distress ORPHA:292
Infantile Krabbe Disease
Respiratory distress ORPHA:206436
Bacterial Toxic-Shock Syndrome
Tachypnea, Ecchymosis, Respiratory distress ORPHA:36234
Death in infancy, Respiratory distress OMIM:100800
Q Fever
Anorexia, Purpura, Respiratory distress ORPHA:781
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress ORPHA:2519
Osteogenesis Imperfecta, Type X
Death in childhood, Respiratory distress OMIM:613848
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Meckel Syndrome 14
Cyanosis OMIM:619879
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Dyspnea, Angioedema, Urticaria, Vasculitis in the skin, Cutis marmorata, Dy... ORPHA:3260
Familial Dysautonomia
Ataxia, Gait disturbance, Acrocyanosis ORPHA:1764
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Lip telangiectasia, G... OMIM:600376
Congenital Tracheal Stenosis
Cyanosis, Dyspnea, Respiratory distress ORPHA:141127
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Ataxia, Lethargy, Respiratory distress ORPHA:79282
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Radio-Renal Syndrome
Dyspnea, Respiratory distress ORPHA:3015
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Respiratory distress OMIM:620369
Ramos-Arroyo Syndrome
Self-mutilation, Respiratory distress ORPHA:1051
Stereotypical hand wringing, Respiratory distress ORPHA:79329
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress OMIM:217980
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Farber Disease
Respiratory distress ORPHA:333
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Miscarriage, Jaundice, Ataxia, Respiratory distress ORPHA:533
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Exertional dyspnea, Cyanosis ORPHA:99050
Cocaine Intoxication
Tachypnea, Respiratory distress, Agitation, Hyperventilation ORPHA:90068
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Hemorrhagic Fever-Renal Syndrome
Agitation, Respiratory distress, Petechiae, Dyspnea, Ecchymosis ORPHA:340
Eisenmenger Syndrome
Exertional dyspnea, Respiratory distress, Hypoxemia, Cyanosis, Lethargy ORPHA:97214
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Urticaria, Respiratory distress ORPHA:37042
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Dysphagia, Attention deficit hyperactivity disorder, Self-injurious behavior, Aggr... ORPHA:466943
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Respiratory distress ORPHA:505248
Idiopathic Bronchiectasis
Dyspnea ORPHA:60033
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Respiratory distress ORPHA:536467
Poems Syndrome
Plethora, Acrocyanosis ORPHA:2905
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Respiratory distress OMIM:306955
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Periorbital wrinkles, Hypohidrotic ectodermal dysplasia, Respiratory distress OMIM:305100
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Exertional dyspnea, Premature skin wrinkling, Prominent superfic... ORPHA:740
Meier-Gorlin Syndrome 1
Death in infancy, Respiratory distress OMIM:224690
Arboleda-Tham Syndrome
Gait imbalance, Dysphagia, Motor stereotypy, Respiratory distress OMIM:616268
Shwachman-Diamond Syndrome 1
Respiratory distress OMIM:260400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Dyspnea, Respiratory distress ORPHA:1546
Congenital Alveolar Capillary Dysplasia
Respiratory distress ORPHA:210122
Colchicine Poisoning
Respiratory distress ORPHA:31824
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress ORPHA:308552
Isolated Arrhinia
Respiratory distress ORPHA:1134
Anorexia, Dyspnea, Respiratory distress ORPHA:31204
Goodpasture Syndrome
Tachypnea, Exertional dyspnea, Cyanosis OMIM:233450
Postinfectious Vasculitis
Anorexia, Palpable purpura, Vasculitis in the skin, Cutis marmorata, Acrocyanosis ORPHA:48435
Rubinstein-Taybi Syndrome 1
Respiratory distress, Hyperactivity, Impulsivity, Unsteady gait, Self-mutilation OMIM:180849
Gitelman Syndrome
Polydipsia, Salt craving, Respiratory distress ORPHA:358
Ear-Patella-Short Stature Syndrome
Dyspnea, Respiratory distress ORPHA:2554
Facial erythema, V-sign, Cutaneous photosensitivity, Shawl sign, Telangiectasia of the skin, Dysp... ORPHA:221
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Erythema, Respiratory distress ORPHA:2556
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Fragile skin, Respiratory distress ORPHA:79404
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Difficulty walking, Acrocyanosis ORPHA:51
Anorexia, Jaundice, Respiratory distress ORPHA:509
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Congenital Total Pulmonary Venous Return Anomaly
Exertional dyspnea, Respiratory distress, Paroxysmal dyspnea, Apneic episodes in infancy, Cyanosis ORPHA:99125
Schinzel-Giedion Syndrome
Dysphagia, Respiratory distress ORPHA:798
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Respiratory distress ORPHA:228123
Campomelic Dysplasia
Apnea, Respiratory distress OMIM:114290
8Q24.3 Microdeletion Syndrome
Hyperactivity, Tics, Dysphagia, Respiratory distress ORPHA:508488
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Fragile skin, Erythema, Respiratory distress OMIM:614748
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Scimitar Syndrome
Respiratory distress ORPHA:185
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Generalized abnormality of skin, Oral-pharyngeal dysphagia, Respiratory distress ORPHA:95455
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Anorexia, Unsteady gait, Respiratory distress ORPHA:707
Stüve-Wiedemann Syndrome
Apnea, Respiratory distress ORPHA:3206
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Fragile skin, Ecchymosis, Acrocyanosis, Bruising susceptibility, Poo... ORPHA:287
Generalized Arterial Calcification Of Infancy
Cyanosis, Respiratory distress ORPHA:51608
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress ORPHA:83617
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Difficulty walking, Respiratory distress ORPHA:480880
Doors Syndrome
Respiratory distress ORPHA:79500
Hypermobile Ehlers-Danlos Syndrome
Bruising susceptibility, Apnea, Acrocyanosis ORPHA:285
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress ORPHA:2255
Ulbright-Hodes Syndrome
Respiratory distress ORPHA:3404
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Waddling gait, Respiratory distress ORPHA:99646
Abnormal subcutaneous fat tissue distribution, Ataxia, Respiratory distress ORPHA:79318
Alström Syndrome
Dorsocervical fat pad, Ataxia, Polyphagia, Respiratory distress ORPHA:64
Brugada Syndrome
Liddle Syndrome 3
Generalized Pseudohypoaldosteronism Type 1
Liddle Syndrome
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive


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 Scnn1a

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 Scnn1a.

No publications found that use IMPC mice or data for Scnn1a.

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MGI Allele Allele Type Produced
Scnn1atm94891(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Scnn1atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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