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Gene: Atp1a2 MGI:88106

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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:
ATPase, Na+/K+ transporting, alpha 2 polypeptide
Synonyms:
Atpa-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 Atp1a2 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 Atp1a2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Developmental And Epileptic Encephalopathy 98
EEG with burst suppression, Attention deficit hyperactivity disorder OMIM:619605
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Chorea, Choreoathetosis, EEG abnormality, Dystonia, Emotional lability, Failure t... ORPHA:2131
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Tremor, Unsteady gait, Hypsarrhythmia, EEG with multifocal slow activity, Difficulty walk... ORPHA:442835
Familial Or Sporadic Hemiplegic Migraine
Impaired temperature sensation, Dissociated sensory loss, EEG with focal sharp waves, EEG abnorma... ORPHA:569
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Dystonia OMIM:104290
Migraine, Familial Hemiplegic, 2
Confusion OMIM:602481

The table below shows human diseases predicted to be associated to Atp1a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Mania, Depression OMIM:125480
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Severe Primary Trimethylaminuria
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... ORPHA:468726
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Glycine Encephalopathy 2
EEG with burst suppression, Respiratory failure OMIM:620398
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Fatiguable weakness of proximal limb ... ORPHA:90117
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Respiratory failure, Cheyne-Stokes respiration, Respiratory insuffici... OMIM:618328
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Hereditary Geniospasm
EEG abnormality, Abnormal social behavior, Intention tremor ORPHA:53372
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Abnormal motor nerve conduction velocity, Respiratory insufficiency, Restri... OMIM:614399
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity OMIM:309585
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... ORPHA:3077
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure OMIM:618637
Hyperekplexia 4
Respiratory failure, Hypsarrhythmia OMIM:618011
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death, Dystonia OMIM:611890
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea, Dystonia OMIM:616277
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Obesity, Limb dystonia OMIM:620270
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspirati... ORPHA:2590
Adiposis Dolorosa
Obesity, Depression OMIM:103200
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Fatigable... ORPHA:98913
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Generalized dystonia, Multifocal epileptiform discharges, EEG with abnormall... ORPHA:70472
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Congenital Neuronal Ceroid Lipofuscinosis
EEG with burst suppression, Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Alpha-aminoadipic aciduria, Hyperglycinuria, Respiratory insufficiency, Opistho... OMIM:605711
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency, Fatigable weakness of skeletal muscles ORPHA:370968
Hsd10 Disease
Ataxia, Tremor, Choreoathetosis, Abnormal urinary acylglycine profile, Gait disturbance, Abnormal... ORPHA:391417
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Irritabilit... OMIM:616881
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Respiratory failure, Dyston... OMIM:618186
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... ORPHA:309246
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... OMIM:312170
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Aminoaciduria OMIM:619386
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response OMIM:617028
Spinocerebellar Ataxia Type 1
Postural tremor, Respiratory failure, Dystonia, Abnormal nerve conduction velocity, Abnormality o... ORPHA:98755
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Tremor, Obesity, Choreoathetosis, Bradykinesia, Shuffling gait, Dystonia,... OMIM:300055
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Tremor, Chorea, Depression, Impaired social interactions, Dystonia, Action tremor OMIM:619738
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk, Chorea, Irritability, Failure to thrive, EEG wit... OMIM:617864
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Tachypnea, Respiratory failure, Inspiratory stridor, Ventila... OMIM:604320
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Beta-aminoisobutyric aciduria, Respiratory insufficiency OMIM:615330
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Dyspnea, Abnormal respiratory system physiology, Fatigable ... ORPHA:803
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Idiopathic Intracranial Hypertension
Lethargy, Abnormal emotion, Obesity, Depression ORPHA:238624
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Dystonia OMIM:256000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Obesity, EEG abnormality, Inappropriate laughter ORPHA:411515
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Elevated circulating creatinine concentration,... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Respiratory failure, ... ORPHA:3240
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Irrit... OMIM:608643
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Opisthotonus OMIM:610678
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Respiratory failure ORPHA:75840
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Interictal epileptiform activity OMIM:620166
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle... OMIM:606071
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Respiratory failure, Limb dystonia ORPHA:363400
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia... ORPHA:309256
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Nephronophthisis 2
Respiratory failure, Elevated circulating creatinine concentration, Respiratory insufficiency OMIM:602088
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Sandestig-Stefanova Syndrome
EEG abnormality, Respiratory failure OMIM:618804
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Obesity ORPHA:444002
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Respiratory failure, Intention tremor OMIM:616505
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Ataxia, Obesity, Dystonia ORPHA:459033
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Increased body weight ORPHA:276608
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Progressive gait ataxia, Dystonia, Emotional lability, Abnor... ORPHA:309263
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Tremor, Respiratory insufficiency due to muscle weakness,... OMIM:615512
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance, Action tremor ORPHA:93952
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, EEG with generalized polyspikes, Obesity, EEG with generalized epileptiform discharges, E... ORPHA:163681
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Depression, Progressive gait ataxia, Difficulty walk... ORPHA:309271
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Tremor, Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Dystonia, Respiratory insufficiency, Respiratory... OMIM:607625
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Gait disturbance, Increased body weight, Hand tremor ORPHA:589905
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis OMIM:620296
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Amin... OMIM:220110
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Gait disturbance, Depression ORPHA:457240
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Respiratory failure, Death in childhood, Opisthotonus OMIM:619847
Alg1-Cdg
Respiratory failure ORPHA:79327
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, Pleural... ORPHA:542323
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Obesity, EEG abnormality,... ORPHA:98794
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Respiratory failure OMIM:620327
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Elevated circulating creatinine concentra... OMIM:608836
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Obesity, EEG abnormality, Inappropriate laughter, Gait imbalance ORPHA:411511
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure, Fatigable... ORPHA:26791
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Depression OMIM:615954
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Tremor, Hypopnea, Respiratory failure, Dystonia, Neonatal death, Respira... OMIM:617248
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Poliomyelitis
Fatigable weakness of respiratory muscles, Respiratory failure requiring assisted ventilation, Re... ORPHA:2912
Leptin Receptor Deficiency
Emotional lability, Obesity OMIM:614963
48,Xxxy Syndrome
Tremor, Obesity, Irritability, Abnormal social behavior, Tall stature, Abnormal aggressive, impul... ORPHA:96263
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Angelman Syndrome
Broad-based gait, Ataxia, Limb tremor, Obesity, EEG abnormality, Progressive gait ataxia, Paroxys... OMIM:105830
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
3-Methylglutaconic Aciduria Type 7
Choreoathetosis, Respiratory failure, Pneumothorax, Opisthotonus ORPHA:445038
Choreoacanthocytosis
Impaired vibratory sensation, Resting tremor, Head titubation, Hair-pulling, Chorea, Socially ina... ORPHA:2388
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Apnea, Respiratory failure OMIM:617301
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Tremor, Dyspnea, Respiratory insufficiency, Death in childhood, Respiratory fai... OMIM:610505
Leigh Syndrome
Generalized aminoaciduria, Hypsarrhythmia, Choreoathetosis, Athetosis, Respiratory failure, Dysto... ORPHA:506
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Choreoathetosis... ORPHA:209905
Childhood Absence Epilepsy
Abnormal social behavior, EEG with spike-wave complexes (2.5-3.5 Hz), Depression ORPHA:64280
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Increased body weight, Depression OMIM:615830
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Wilson Disease
Increased body weight, Weight loss, Depression, Difficulty walking, Failure to thrive ORPHA:905
Insulinoma
Tremor, Increased body weight, Paresthesia, Abnormality of pain sensation, Lethargy ORPHA:97279
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Ataxia, Obesity, Dystonia OMIM:616267
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Titubation ORPHA:280210
Tay-Sachs Disease
Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Depression, Gait disturbance,... ORPHA:845
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking ORPHA:320406
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Pn... ORPHA:79138
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia, Dys... ORPHA:496641
Boutonneuse Fever
Respiratory failure ORPHA:83313
Smith-Magenis Syndrome
EEG abnormality, Increased body weight, Impaired pain sensation OMIM:182290
Asparagine Synthetase Deficiency
Exaggerated startle response, Tremor, EEG with burst suppression, Hypsarrhythmia, Irritability, F... OMIM:615574
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Wagro Syndrome
Emotional lability, Low frustration tolerance, Impaired social interactions, Obesity OMIM:612469
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Overgrowth OMIM:300607
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tremor, Lethargy, Increased body weight, Large for gestational age ORPHA:263455
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia ORPHA:530983
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Lethargy, Depression ORPHA:99832
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Fatigable weakness of bulbar muscles, Respiratory insufficiency due to muscle weakne... ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Multifocal epileptiform discharges, Irritability, EEG abnormality, Abnormal so... ORPHA:1675
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:618278
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... ORPHA:420741
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia ORPHA:438216
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Depression, Abdominal obesity, Emotional lability, Mania ORPHA:189427
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Elevated circulating creatinine concentratio... ORPHA:340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hypsarrhythmia ORPHA:447997
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Adrenocortical Carcinoma
Irritability, Increased body weight, Weight loss ORPHA:1501
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Dystonia OMIM:272750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure, Hypsarrhythmia OMIM:300868
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:252010
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Tremor, Respiratory failure ORPHA:533
Niemann-Pick Disease Type C
Axial dystonia, Dystonia, Ataxia, Tremor, Chorea, Depression, Progressive gait ataxia, Gait distu... ORPHA:646
Sandhoff Disease
Exaggerated startle response, Ataxia, Impaired temperature sensation OMIM:268800
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Bloom Syndrome
Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure ORPHA:125
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Failure to thrive, Hypsarrhythmia, Dystonia ORPHA:521426
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia ORPHA:1020
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, Abnorm... ORPHA:314647
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior, Slender build ORPHA:93932
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response OMIM:617281
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Developmental And Epileptic Encephalopathy 98
EEG with burst suppression, Attention deficit hyperactivity disorder OMIM:619605
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Fatigable weakness of bulbar muscles, Respira... ORPHA:273
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Increased body weight, Abdominal obesity, Lethargy, Failure to th... ORPHA:398069
Abetalipoproteinemia
Respiratory failure ORPHA:14
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure ORPHA:79404
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature OMIM:117550
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia ORPHA:647
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect ORPHA:96334
Fraser Syndrome 2
Respiratory failure OMIM:617666
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Ataxia OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Broad-based gait, Hair-pulling, Dystonia, Emotional lability OMIM:620330
Trichotillomania
Hair-pulling OMIM:613229
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive OMIM:617527
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2556
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax ORPHA:731
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Obesity, Impaired social interactions ORPHA:177907
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, EEG with focal epileptiform discharges, EEG abnormality, Inappropriate... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, EEG with focal epileptiform discharges, EEG abnormality, Inappropriate... ORPHA:363958
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Chorea, Choreoathetosis, EEG abnormality, Dystonia, Emotional lability, Failure t... ORPHA:2131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Cushing Disease
Increased body weight, Depression, Truncal obesity, Abdominal obesity, Emotional lability ORPHA:96253
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Monosomy 22Q13.3
Hair-pulling, Obesity, Impaired pain sensation ORPHA:48652
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema ORPHA:500150
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Tremor, Unsteady gait, Hypsarrhythmia, EEG with multifocal slow activity, Difficulty walk... ORPHA:442835
Mend Syndrome
Failure to thrive, Abnormal social behavior, Abnormal auditory evoked potentials ORPHA:401973
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Familial Or Sporadic Hemiplegic Migraine
Impaired temperature sensation, Dissociated sensory loss, EEG with focal sharp waves, EEG abnorma... ORPHA:569
Williams Syndrome
Ataxia, Failure to thrive in infancy, Tremor, Obesity, Dysmetria, Depression, Gait disturbance, G... ORPHA:904
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity, Emotional lab... ORPHA:99889
Hellp Syndrome
Increased body weight ORPHA:244242
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Exaggerated startle response, Broad-based gait, Dystonia ORPHA:438213
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Dystonia OMIM:104290
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359
Migraine, Familial Hemiplegic, 2
Confusion OMIM:602481

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 Atp1a2

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 Atp1a2.

No publications found that use IMPC mice or data for Atp1a2.

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
Atp1a2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atp1a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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