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Gene: Eif4e2 MGI:1914440

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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:
eukaryotic translation initiation factor 4E member 2
Synonyms:
D0H0S6743E,  Eif4el3,  2700069E09Rik

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 Eif4e2 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 Eif4e2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
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
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
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
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Breath-Holding Spells
Cyanosis OMIM:607578
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death OMIM:611890
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Hyperekplexia 4
Respiratory failure OMIM:618011
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Buerger Disease
Acrocyanosis ORPHA:36258
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Tricuspid Atresia
Cyanosis ORPHA:1209
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Respiratory insufficiency OMIM:245650
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Alg1-Cdg
Respiratory failure ORPHA:79327
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
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
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:3309
Dravet Syndrome
Cyanotic episode ORPHA:33069
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Meckel Syndrome 14
Pneumothorax, Cyanosis, Cardiorespiratory arrest OMIM:619879
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration ORPHA:506
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Cutaneou... ORPHA:125
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Tarp Syndrome
Cyanosis, Apnea ORPHA:2886
Double Outlet Left Ventricle
Cyanosis, Tachypnea ORPHA:3427
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Cough ORPHA:137675
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis ORPHA:268943
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Nijmegen Breakage Syndrome
Respiratory failure, Cutaneous photosensitivity, Recurrent pneumonia ORPHA:647
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure OMIM:300868
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest ORPHA:293987
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Abetalipoproteinemia
Respiratory failure ORPHA:14
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure ORPHA:731
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Erythema ORPHA:2556
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Fraser Syndrome 2
Respiratory failure OMIM:617666
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin ORPHA:805
Niemann-Pick Disease Type C
Jaundice, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Steinert Myotonic Dystrophy
Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... ORPHA:273
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect ORPHA:96334
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis OMIM:306955
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema ORPHA:500150
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285

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 Eif4e2

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 Eif4e2.

No publications found that use IMPC mice or data for Eif4e2.

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
Eif4e2tm47482(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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