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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
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
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

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 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
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II 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 expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... 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
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes ORPHA:45452
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneu... ORPHA:36238
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Episodic tachypnea OMIM:615160
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:614299
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemia, Dyspnea, A... ORPHA:348
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Propionic Acidemia
Tachypnea, Apnea, Hypoglycemia OMIM:606054
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Respiratory arrest, Tachypnea OMIM:201475
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Citrullinemia Type I
Tachypnea ORPHA:247525
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea OMIM:615838
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea OMIM:614857
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Tachypnea, Hypoketotic hypoglycemia ORPHA:26793
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Maternal diabetes ORPHA:860
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Beta-Ketothiolase Deficiency
Hyperglycemia, Tachypnea, Hypoglycemia, Cough ORPHA:134
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Cholera
Tachypnea, Hypoglycemia, Aspiration pneumonia, Hyperventilation ORPHA:173
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Recurrent hypoglycemia, Tachypnea, Apnea ORPHA:20
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Hypoglycemia OMIM:615751
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea OMIM:239200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachypnea, Pneumonia ORPHA:36234
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Serotonin Syndrome
Tachypnea ORPHA:43116
Rh Deficiency Syndrome
Hypoxemia, Tachypnea ORPHA:71275
Pyruvate Carboxylase Deficiency
Hyperglycemia, Tachypnea, Hypoglycemia, Abnormal pattern of respiration ORPHA:3008
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Histiocytoid Cardiomyopathy
Tachypnea, Hypoglycemia, Cough ORPHA:137675
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:618278
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Scorpion Envenomation
Abnormal nasal mucus secretion, Hyperglycemia, Tachypnea, Glycosuria ORPHA:466677
Arima Syndrome
Dyspnea, Tachypnea OMIM:243910
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea OMIM:233450
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Exercise-Induced Malignant Hyperthermia
Tachypnea, Crackles, Hypocapnia ORPHA:466650
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Tachypnea, Hypoglycemia OMIM:220111
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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