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Gene: Kcnn3 MGI:2153183

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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:
potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3
Synonyms:
SK3,  small conductance calcium-activated potassium channel 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 Kcnn3 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 Kcnn3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Zimmermann-Laband Syndrome 3
OMIM:618658
Zimmermann-Laband Syndrome
ORPHA:3473

The table below shows human diseases predicted to be associated to Kcnn3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency OMIM:611722
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea OMIM:615228
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Phosphoserine Aminotransferase Deficiency
Apnea OMIM:610992
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Respiratory insufficiency ORPHA:209370
Ravine Syndrome
Apnea ORPHA:99852
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Strido... OMIM:608800
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea OMIM:618414
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Apnea OMIM:616277
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Joubert Syndrome 33
Apnea OMIM:617767
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Benign Familial Neonatal Epilepsy
Apnea ORPHA:1949
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Succinic Acidemia
Respiratory distress OMIM:600335
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Respiratory insufficiency OMIM:618228
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Benign Familial Infantile Epilepsy
Apnea ORPHA:306
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea OMIM:618235
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Apnea OMIM:619797
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency OMIM:618226
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea ORPHA:71277
Illum Syndrome
Apnea OMIM:208155
48,Xxyy Syndrome
Apnea, Hypergonadotropic hypogonadism, Cryptorchidism, Asthma, Azoospermia, Infertility, Decrease... ORPHA:10
Pontocerebellar Hypoplasia, Type 6
Apnea OMIM:611523
Hypoadrenocorticism, Familial
Apnea OMIM:240200
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia OMIM:618253
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Developmental And Epileptic Encephalopathy 99
Central apnea OMIM:619606
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea OMIM:610015
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Diethylstilbestrol Syndrome
Central apnea, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, T... ORPHA:1916
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Apnea OMIM:300055
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Apnea, Respiratory insufficiency OMIM:608093
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea OMIM:614498
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Central hypoventilation OMIM:620167
Pseudo-Torch Syndrome 3
Apnea, Respiratory insufficiency OMIM:618886
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Fatal Familial Insomnia
Apnea OMIM:600072
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea OMIM:261680
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea, Cryptorchidism ORPHA:3282
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration ORPHA:220497
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Irregular menstruation, Respiratory failure, Pulmonary arter... OMIM:616482
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:614299
Hypophosphatasia, Infantile
Apnea OMIM:241500
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Apnea OMIM:214110
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Apnea OMIM:614969
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration ORPHA:220493
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea OMIM:615157
Congenital Myasthenic Syndrome
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:98914
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Hydrocele testis ORPHA:79330
Gaucher Disease, Type Ii
Stridor, Apnea, Recurrent aspiration pneumonia, Cough OMIM:230900
Tenorio Syndrome
Recurrent pneumonia, Apnea OMIM:616260
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory failure, Apnea, Respiratory insufficiency OMIM:608836
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Stridor, Aspiration, Neonatal respiratory distress, Apnea OMIM:614653
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Necrotizing Enterocolitis
Apnea ORPHA:391673
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea OMIM:619580
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Autosomal Recessive Spastic Paraplegia Type 77
Bilateral cryptorchidism, Sudden episodic apnea ORPHA:466722
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea OMIM:618426
Genitopatellar Syndrome
Cryptorchidism, Apnea ORPHA:85201
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea OMIM:608013
Orofaciodigital Syndrome Type 6
Bilateral cryptorchidism, Apnea, Episodic tachypnea ORPHA:2754
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Cryptorchidism OMIM:614857
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Xp21 Deletion Syndrome
Apneic episodes in infancy, Hypogonadotropic hypogonadism ORPHA:261476
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Episodic tachypnea ORPHA:2872
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration ORPHA:1454
Citrullinemia Type I
Tachypnea ORPHA:247525
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea ORPHA:20
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Respiratory insufficiency OMIM:617527
Glass Syndrome
Apnea OMIM:612313
Plaa-Associated Neurodevelopmental Disorder
Apnea, Respiratory insufficiency ORPHA:521426
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Cough ORPHA:579
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea OMIM:615838
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Chronic Bilirubin Encephalopathy
Central apnea ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea ORPHA:529799
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea ORPHA:395
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Cryptorchidism, Stridor, Aspiration pneumonia, Pulmonary arteria... OMIM:602535
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency OMIM:601559
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea ORPHA:2131
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, De... ORPHA:98754
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Respiratory arrest, Respiratory failure, Apnea OMIM:617248
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, De... ORPHA:98793
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, De... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, De... ORPHA:177901
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation OMIM:617799
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Shprintzen-Goldberg Syndrome
Cryptorchidism, Apnea ORPHA:2462
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea OMIM:201475
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Apnea OMIM:261740
Wolfram Syndrome
Central apnea, Male hypogonadism, Hypogonadism, Respiratory insufficiency ORPHA:3463
Schwartz-Jampel Syndrome
Apnea, Respiratory insufficiency, Testicular torsion, Pulmonary arterial hypertension, Decreased ... ORPHA:800
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Tarp Syndrome
Cryptorchidism, Apnea ORPHA:2886
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory failure, Apnea, Respiratory insufficiency OMIM:252010
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea ORPHA:26793
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Apnea OMIM:300373
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Pancreatic And Cerebellar Agenesis
Apnea OMIM:609069
Ogden Syndrome
Apnea, Cryptorchidism, Hydrocele testis, Pulmonary arterial hypertension, Restrictive ventilatory... OMIM:300855
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc... OMIM:114290
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea ORPHA:98889
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea ORPHA:860
Mosaic Variegated Aneuploidy Syndrome
Apnea ORPHA:1052
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Hyperventilation ORPHA:522077
Bohring-Opitz Syndrome
Apnea ORPHA:97297
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea, Cryptorchidism OMIM:613834
Unilateral Polymicrogyria
Apnea, Epistaxis ORPHA:268943
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea OMIM:239200
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Apnea, Chronic rhinitis ORPHA:667
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Slc39A8-Cdg
Sudden episodic apnea ORPHA:468699
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Beta-Ketothiolase Deficiency
Tachypnea, Cough ORPHA:134
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Rh Deficiency Syndrome
Hypoxemia, Tachypnea ORPHA:71275
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachypnea, Pneumonia ORPHA:36234
Serotonin Syndrome
Tachypnea ORPHA:43116
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Aspiration pneumonia ORPHA:438213
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Apnea, Cryptorchidism, Asthma, Aspiration OMIM:619503
Hypermobile Ehlers-Danlos Syndrome
Apnea, Decreased fertility, Abnormality of the menstrual cycle ORPHA:285
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Double Outlet Left Ventricle
Cryptorchidism, Tachypnea ORPHA:3427
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:618278
Pyruvate Carboxylase Deficiency
Tachypnea, Abnormal pattern of respiration ORPHA:3008
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea OMIM:233450
Histiocytoid Cardiomyopathy
Tachypnea, Cough ORPHA:137675
Arima Syndrome
Dyspnea, Tachypnea OMIM:243910
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Scorpion Envenomation
Abnormal nasal mucus secretion, Tachypnea, Priapism ORPHA:466677
Exercise-Induced Malignant Hyperthermia
Tachypnea, Crackles, Hypocapnia ORPHA:466650
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea OMIM:220111
Pallister-Killian Syndrome
Cryptorchidism, Apneic episodes in infancy, Hyperventilation OMIM:601803
Truncus Arteriosus
Tachypnea ORPHA:3384
Zimmermann-Laband Syndrome 3
OMIM:618658
Zimmermann-Laband Syndrome
ORPHA:3473

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 Kcnn3

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 Kcnn3.

No publications found that use IMPC mice or data for Kcnn3.

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
Kcnn3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kcnn3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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