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Gene: Oga MGI:1932139

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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:
O-GlcNAcase
Synonyms:
2810009A20Rik,  4833427O07Rik,  5830447M11Rik,  Mgea5,  Hy5

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 Oga mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... ORPHA:70588
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Immunodeficiency 54
Chromosome breakage, Recurrent respiratory infections, Short stature, Postnatal growth retardatio... OMIM:609981
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... OMIM:619057
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As... ORPHA:2902
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
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
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchang... OMIM:618097
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... OMIM:265120
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... OMIM:609054
Fanconi Anemia, Complementation Group O
Chromosome breakage, Death in infancy, Miscarriage, Short stature, Cryptorchidism, Neonatal death OMIM:613390
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... OMIM:620326
Nijmegen Breakage Syndrome-Like Disorder
Growth delay, Short stature, Chromosomal breakage induced by ionizing radiation OMIM:613078
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Short stature OMIM:600561
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... OMIM:263000
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respira... OMIM:245400
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Respiratory failure, Neonatal d... OMIM:611890
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... ORPHA:99931
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group G
Growth delay, Abnormality of chromosome stability OMIM:614082
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel... OMIM:300219
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... ORPHA:36238
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... OMIM:620233
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Fanconi Anemia, Complementation Group D1
Intrauterine growth retardation, Short stature, Chromosomal breakage induced by crosslinking agents OMIM:605724
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
N Syndrome
Cryptorchidism, Abnormality of chromosome stability OMIM:310465
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Severe short stature, Respiratory insufficiency OMIM:313420
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Ataxia-Telangiectasia
Recurrent respiratory infections, Abnormality of chromosome stability, Short stature, Delayed pub... ORPHA:100
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:615330
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Ciliary Dyskinesia, Primary, 1
Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhiniti... OMIM:244400
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory failure, Respiratory insufficiency ORPHA:370968
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy OMIM:610678
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Cryptorchidism, Growth delay, Respiratory failure, Intrauterine growth retardation ORPHA:1194
Hyperekplexia 4
Respiratory failure OMIM:618011
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspiratory stridor, Ventilator ... OMIM:604320
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Farber Disease
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... ORPHA:333
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Cryptorch... OMIM:210900
Fanconi Anemia, Complementation Group B
Death in infancy, Abnormality of chromosome stability, Abnormal lung lobation, Growth delay, Intr... OMIM:300514
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short stature, Chromosomal breakage induced by crosslinking agents OMIM:619060
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Radial-Renal Syndrome
Chromosome breakage, Short stature OMIM:179280
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Fanconi Anemia, Complementation Group T
Short stature, Chromosomal breakage induced by crosslinking agents OMIM:616435
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... OMIM:615067
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Sinusitis ORPHA:908
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Decreased mitocho... ORPHA:352447
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Short-Rib Thoracic Dysplasia 12
Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Intrauterine growth... OMIM:269860
Riddle Syndrome
Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary ... ORPHA:420741
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Fanconi Anemia, Complementation Group S
Chromosome breakage, Short stature OMIM:617883
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Cough ORPHA:2314
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Atelectasis, Recurrent pneumonia, Growth delay, Pulmonary hypoplasia, Death in ... OMIM:613177
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Recurrent upper re... OMIM:620296
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Fanconi Anemia, Complementation Group C
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... OMIM:227645
Metatropic Dysplasia
Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp... OMIM:156530
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Fanconi Anemia, Complementation Group Q
Growth delay, Chromosome breakage, Short stature OMIM:615272
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure OMIM:618804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... ORPHA:536467
Fanconi Anemia, Complementation Group E
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... OMIM:600901
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Short stature, Chromosomal breakage induced by crosslinking agents OMIM:609053
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Fanconi Anemia, Complementation Group V
Short stature, Chromosomal breakage induced by crosslinking agents OMIM:617243
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... OMIM:616482
Icf Syndrome
Recurrent respiratory infections, Abnormality of chromosome stability, Short stature ORPHA:2268
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Fanconi Anemia, Complementation Group A
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... OMIM:227650
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Short stature, Intercostal muscle weakness OMIM:606071
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr... ORPHA:365
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis ORPHA:319213
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Cryptorchidism, Intrauterine growth retardation, Chromosomal breakage i... OMIM:603467
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Lig4 Syndrome
Growth delay, Cryptorchidism, Abnormality of chromosome stability ORPHA:99812
Alg1-Cdg
Respiratory failure ORPHA:79327
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... ORPHA:555874
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Respiratory failure, Short stature, Death in childhood OMIM:619847
Bone Marrow Failure Syndrome 3
Chromosome breakage, Intrauterine growth retardation, Short stature, Cryptorchidism OMIM:617052
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Respiratory failure, Cryptorchidism OMIM:620327
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... ORPHA:209905
Dyskeratosis Congenita, Autosomal Recessive 8
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:620133
Zygomycosis
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumoni... ORPHA:73263
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
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
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Short stature ORPHA:1861
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Oculocerebrofacial Syndrome, Kaufman Type
Growth delay, Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... ORPHA:51636
Fanconi Anemia, Complementation Group P
Growth delay, Cryptorchidism, Short stature, Chromosomal breakage induced by crosslinking agents OMIM:613951
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Fanconi Anemia, Complementation Group L
Growth delay, Intrauterine growth retardation, Chromosome breakage, Chromosomal breakage induced ... OMIM:614083
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
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
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood, In... OMIM:610505
Fanconi Anemia, Complementation Group U
Growth delay, Chromosome breakage OMIM:617247
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:85327
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
3-Methylglutaconic Aciduria Type 7
Growth delay, Respiratory failure, Pneumothorax ORPHA:445038
Fanconi Anemia, Complementation Group R
Growth delay, Chromosomal breakage induced by crosslinking agents OMIM:617244
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... ORPHA:3015
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Oligozoospermi... ORPHA:125
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:610832
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Abnormality of chromosome stability, Recurrent respiratory in... ORPHA:647
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Short stature, Cryptorchidism, Atelectasis, R... ORPHA:534
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
22Q11.2 Deletion Syndrome
Short stature, Cryptorchidism, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Ate... ORPHA:567
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Revesz Syndrome
Intrauterine growth retardation, Abnormality of chromosome stability OMIM:268130
Fanconi Anemia, Complementation Group D2
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... OMIM:227646
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Growth delay, Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent ... ORPHA:496641
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Short stature ORPHA:280210
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Respiratory failure ORPHA:158687
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure ORPHA:254528
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Rhizomelia, Disproportionate short-limb short stature, Respi... ORPHA:175
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Growth delay, Hypopnea, Respiratory failure, Neonatal death, Respiratory... OMIM:617248
Boutonneuse Fever
Respiratory failure ORPHA:83313
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Short stature, Pneumonia OMIM:617809
S-Adenosylhomocysteine Hydrolase Deficiency
Growth delay, Respiratory failure ORPHA:88618
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Respiratory failure ORPHA:3240
Leigh Syndrome
Growth delay, Intrauterine growth retardation, Respiratory failure, Abnormal pattern of respiration ORPHA:506
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, ... OMIM:613658
Relapsing Polychondritis
Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough ORPHA:728
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Osteopetrosis, Autosomal Recessive 5
Growth delay, Respiratory failure, Stillbirth, Short stature OMIM:259720
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Dyspnea, Cryptorchidism, Growth delay, Respiratory fa... ORPHA:2554
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... ORPHA:3342
Fanconi Anemia
Abnormality of chromosome stability, Short stature, Cryptorchidism, Growth delay, Azoospermia, In... ORPHA:84
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Respiratory insufficiency, Growth delay, Respiratory failure OMIM:252010
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Digeorge Syndrome
Short stature, Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Hydrocele... OMIM:188400
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Myhre Syndrome
Short stature, Cryptorchidism, Respiratory insufficiency, Birth length less than 3rd percentile, ... OMIM:139210
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short stature, Miscarriage, Postnatal growth retardation, Cryptorchidism, Pulmonary artery stenos... ORPHA:96334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Chand Syndrome
Atelectasis ORPHA:1401
Listeriosis
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia ORPHA:533
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Growth delay, Stridor, Respiratory failure ORPHA:79404
Meningioma
Progressive pulmonary function impairment, Abnormality on pulmonary function testing, Chromosomal... ORPHA:2495
Ulbright-Hodes Syndrome
Respiratory distress, Postnatal growth retardation, Cryptorchidism, Pneumothorax, Birth length le... ORPHA:3404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure OMIM:300868
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Growth delay, Respiratory failure... ORPHA:731
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Abnormal ... ORPHA:2556
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Severe short stature, Dyspnea, Cryptorchidism, Respiratory failure, Intrauterine growth retardation ORPHA:2636
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory insufficiency, Pulmonary infiltrates, Respiratory failure, ... ORPHA:646
Costello Syndrome
Short stature, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia OMIM:218040
Abetalipoproteinemia
Respiratory failure ORPHA:14
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Proportionate short stature, Respiratory failure, Intrauterine growth r... ORPHA:500150
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Respiratory tract infection, Pulmonary lymphangiomyoma... ORPHA:805
Fraser Syndrome 2
Respiratory failure OMIM:617666
Otopalatodigital Syndrome, Type Ii
Short stature, Postnatal growth retardation, Cryptorchidism, Respiratory insufficiency, Respirato... OMIM:304120

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 Oga

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 Oga.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ogatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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