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Gene: Eef2kmt MGI:1917761

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Gene Summary

Name:
eukaryotic elongation factor 2 lysine methyltransferase
Synonyms:
Fam86,  5730409G15Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Eef2kmttm1b(EUCOMM)Wtsi HOM Early adult 5.67×10-05
increased grip strength Eef2kmttm1e(EUCOMM)Wtsi HOM Early adult 4.42×10-05
increased pulmonary respiratory rate Eef2kmttm1b(EUCOMM)Wtsi HOM Early adult 4.02×10-23
abnormal response to tactile stimuli Eef2kmttm1e(EUCOMM)Wtsi HOM   Early adult 3.53×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Human diseases caused by Eef2kmt 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 Eef2kmt by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced vital capacity, Restrictive ventilatory defect, Reduced forced expiratory volume i... OMIM:300770
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea OMIM:267450
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Tachypnea OMIM:616414
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H... ORPHA:91359
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... ORPHA:60032
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Cough, Respiratory distress, Tachypnea OMIM:263000
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Respiratory distress, Tachypnea ORPHA:45452
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Diab... ORPHA:36238
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Interstitial pneumonitis, Spontaneous neonatal pneumothorax, Neo... ORPHA:217563
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitial pneumoni... OMIM:610913
Joubert Syndrome 7
Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
Acute Lung Injury
Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea ORPHA:178320
Infant Acute Respiratory Distress Syndrome
Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea ORPHA:70587
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory defect, Ne... ORPHA:2257
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Episodic tachypnea OMIM:615160
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Asthma, Hypoxemia, Respiratory distress, Oxygen desaturation on exertion, Crackles, Restrictive v... OMIM:610978
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Apnea, Dyspnea, Respiratory failure, Neonatal respiratory distre... OMIM:265120
Acute Interstitial Pneumonia
Bronchiectasis, Hypoxemia, Pleural effusion, Crackles, Dyspnea, Respiratory failure, Decreased DL... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory failure, Exertional dyspnea, Hypoxemia, Respiratory distress, Apnea, Nonspecific inte... OMIM:610921
Avian Influenza
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Pleural effusion, Dyspnea, Cough... ORPHA:454836
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Ventilator dependence with inability to wean, Inspiratory stridor, Tachypnea OMIM:604320
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Respiratory distress, Tachypnea OMIM:614299
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... ORPHA:348
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Propionic Acidemia
Apnea, Hypoglycemia, Tachypnea OMIM:606054
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Nonketotic hypoglycemia, Tachypnea OMIM:201475
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Joubert Syndrome 3
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:608629
Atypical Rett Syndrome
Abnormal pattern of respiration, Sudden episodic apnea, Episodic tachypnea ORPHA:3095
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Citrullinemia Type I
Tachypnea ORPHA:247525
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea OMIM:615838
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea OMIM:614857
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Episodic tachypnea, Respiratory distress, Pneumonia, Tachypnea ORPHA:26793
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Respiratory failure, Hypoxemia, Tachypnea ORPHA:542323
Congenitally Uncorrected Transposition Of The Great Arteries
Maternal diabetes, Hypoxemia, Tachypnea ORPHA:860
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Cough, Tachypnea ORPHA:134
Coronary Arterial Fistula
Pulmonary arterial hypertension, Orthopnea, Exertional dyspnea, Tachypnea ORPHA:2041
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Pneumothorax, Exertional dyspnea, Bronchiectasis, Hypoxemia, Oxygen de... ORPHA:60025
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Intercostal retractions, Crackles, Recurrent pneumonia, Pulmo... ORPHA:1329
Joubert Syndrome With Oculorenal Defect
Apnea, Tachypnea ORPHA:2318
Congenital Tricuspid Valve Dysplasia
Respiratory failure, Respiratory failure requiring assisted ventilation, Hypoxemia, Tachypnea ORPHA:555874
Cholera
Hypoglycemia, Aspiration pneumonia, Hyperventilation, Tachypnea ORPHA:173
Holocarboxylase Synthetase Deficiency
Hyperventilation, Tachypnea OMIM:253270
Brachytelephalangic Chondrodysplasia Punctata
Asthma, Central apnea, Neonatal respiratory distress, Respiratory failure requiring assisted vent... ORPHA:79345
Joubert Syndrome
Apnea, Abnormal pattern of respiration, Episodic tachypnea ORPHA:475
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Nonketotic hypoglycemia, Recurrent hypoglycemia, Tachypnea ORPHA:20
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Tachypnea OMIM:615751
Biotinidase Deficiency
Apnea, Tachypnea OMIM:253260
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Exertional dyspnea, Abnormal respiratory system physiology, Airw... ORPHA:99106
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea OMIM:239200
Bacterial Toxic-Shock Syndrome
Pneumonia, Sinusitis, Respiratory distress, Tachypnea ORPHA:36234
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Chronic lung disease, Recurrent aspiration pneumonia, Tachypnea ORPHA:397715
Rh Deficiency Syndrome
Hypoxemia, Tachypnea ORPHA:71275
Serotonin Syndrome
Tachypnea ORPHA:43116
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia, Abnormal pattern of respiration, Tachypnea ORPHA:3008
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Cocaine Intoxication
Pneumothorax, Wheezing, Respiratory distress, Cough, Hyperventilation, Tachypnea ORPHA:90068
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea ORPHA:31826
Joubert Syndrome 2
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:608091
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Tachypnea ORPHA:423
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Emphysema, Hypoglycemia, Cough, Respiratory failure, Tachypnea OMIM:613658
Histiocytoid Cardiomyopathy
Hypoglycemia, Cough, Tachypnea ORPHA:137675
Joubert Syndrome 1
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:213300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Respiratory failure, Tachypnea OMIM:618278
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Scorpion Envenomation
Hyperglycemia, Abnormal nasal mucus secretion, Glycosuria, Tachypnea ORPHA:466677
Joubert Syndrome 5
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:610188
Arima Syndrome
Dyspnea, Tachypnea OMIM:243910
Goodpasture Syndrome
Exertional dyspnea, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Increased DLCO OMIM:233450
Aortic Arch Interruption
Exertional dyspnea, Tachypnea, Respiratory distress ORPHA:2299
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Exercise-Induced Malignant Hyperthermia
Crackles, Hypocapnia, Tachypnea ORPHA:466650
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Tachypnea OMIM:220111
Orofaciodigital Syndrome Type 2
Apnea, Tachypnea ORPHA:2751
Truncus Arteriosus
Tachypnea ORPHA:3384

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 Eef2kmt

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 Eef2kmt.

No publications found that use IMPC mice or data for Eef2kmt.

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MGI Allele Allele Type Produced
Eef2kmttm1e(EUCOMM)Wtsi Targeted, non-conditional allele Mice, ES Cells
Eef2kmttm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Eef2kmttm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Eef2kmttm46166(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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