Gene Summary

Name:
fucosyltransferase 8
Synonyms:
alpha (1,6) fucosyltransferase

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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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.

Legacy Phenotype Associated Images

Human diseases caused by Fut8 mutations

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

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

The table below shows human diseases associated to Fut8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Respiratory insufficiency, Intrauterine growth retardation, Short stature OMIM:618005

The table below shows human diseases predicted to be associated to Fut8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Bronchie... OMIM:613490
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Short stature, Emphysema OMIM:210050
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis OMIM:604571
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal ... OMIM:612387
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Hypophosphatasia
Respiratory insufficiency, Short stature, Emphysema ORPHA:436
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema, Decreased DLCO OMIM:618913
Meier-Gorlin Syndrome 4
Intrauterine growth retardation, Short stature, Birth length less than 3rd percentile, Emphysema OMIM:613804
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Emphysema OMIM:242700
Immunodeficiency 89 And Autoimmunity
Asthma, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla, Bronch... OMIM:619632
Netherton Syndrome
Asthma, Short stature, Recurrent respiratory infections, Emphysema ORPHA:634
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Cough, Restrictive ventilatory defect, Emphysema, Pleural effusion, Dyspnea ORPHA:36412
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Pneumonia, Bronchiectasis, Emphysema, Recur... ORPHA:1572
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Dyspnea, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Cutis Laxa, Autosomal Recessive, Type Ic
Tracheomalacia, Pulmonary hypoplasia, Emphysema, Growth delay, Pulmonary artery stenosis OMIM:613177
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... OMIM:300770
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Respiratory insufficiency, Recurrent pneumonia, Emphysema, ... ORPHA:90349
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema OMIM:614816
Lymphangioleiomyomatosis
Chylothorax, Cough, Restrictive ventilatory defect, Emphysema, Pneumothorax, Dyspnea, Pulmonary l... ORPHA:538
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ventilator... OMIM:610910
Meier-Gorlin Syndrome 6
Severe short stature, Tracheobronchomalacia, Delayed puberty, Emphysema, Recurrent respiratory in... OMIM:616835
Sarcoidosis, Susceptibility To, 1
Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal pulmonary inters... OMIM:181000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Nocardiosis
Respiratory distress, Nonproductive cough, Pneumothorax, Pleuritis, Productive cough, Pneumonia, ... ORPHA:31204
Immunodeficiency 54
Short stature, Respiratory insufficiency, Respiratory failure, Postnatal growth retardation, Intr... OMIM:609981
Keutel Syndrome
Peripheral pulmonary artery stenosis, Airway obstruction, Sinusitis, Pulmonary artery hypoplasia,... OMIM:245150
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Intrauterine growth retardation, Postnatal growth retardation, Pulmonary hy... OMIM:616733
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Neonatal short-limb short stature, Intrauterine growth retardati... ORPHA:289
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Pulmonary hypoplasia, Interstitial emphysema OMIM:619708
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Emphysema ORPHA:363618
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intrauterine growth retardation, Short stature, Respiratory insufficiency, Abnormal pulmonary int... OMIM:613658
Neonatal Marfan Syndrome
Neonatal respiratory distress, Hypoxemia, Emphysema ORPHA:284979
Meier-Gorlin Syndrome 1
Respiratory distress, Intrauterine growth retardation, Birth length less than 3rd percentile, Emp... OMIM:224690
Fabry Disease
Chronic pulmonary obstruction, Short stature, Respiratory insufficiency, Delayed puberty, Emphyse... ORPHA:324
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Recurrent bronchopulmonary infections, Recurrent pneumonia, Emphysema OMIM:219721
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha... OMIM:130050
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Bronchiectasis, Postnatal growth ... ORPHA:90348
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema OMIM:614437
Sarcoidosis
Chylothorax, Abnormal pleura morphology, Cough, Pneumothorax, Upper airway obstruction, Pleural e... ORPHA:797
Marfan Syndrome
Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema ORPHA:558
Marfan Syndrome
Pneumothorax, Pulmonary artery dilatation, Emphysema OMIM:154700
Familial Isolated Restrictive Cardiomyopathy
Pulmonary venous hypertension, Pulmonary edema, Postnatal growth retardation, Orthopnea, Dyspnea,... ORPHA:75249
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Respiratory failure, Emphysema, Proportionate short stature, Intrauteri... ORPHA:500150
Viss Syndrome
Asthma, Short stature, Pulmonary artery aneurysm, Emphysema, Pneumothorax, Dyspnea, Pulmonary art... OMIM:619472
Sotos Syndrome
Small cell lung carcinoma, Pulmonary bleb ORPHA:821
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Respiratory insufficiency, Intrauterine growth retardation, Short stature OMIM:618005

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 Fut8

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 Fut8.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Fut8em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Fut8em1(IMPC)Wtsi Fut8em1(IMPC)Wtsi PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Fut8em1Wtsi PMC5827107

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MGI Allele Allele Type Produced
Fut8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fut8em1(IMPC)Wtsi Exon Deletion Mice
Fut8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fut8tm79138(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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