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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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.

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
Intrauterine growth retardation, Respiratory insufficiency, 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 bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... ORPHA:79127
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
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
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema OMIM:604571
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Nonspecific interstitial pn... OMIM:610921
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Hypophosphatasia
Emphysema, Respiratory insufficiency, Short stature ORPHA:436
Fanconi Renotubular Syndrome 5
Pulmonary fibrosis, Emphysema, Decreased DLCO, Lung adenocarcinoma OMIM:618913
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... OMIM:619632
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Meier-Gorlin Syndrome 4
Birth length less than 3rd percentile, Emphysema, Intrauterine growth retardation, Short stature OMIM:613804
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Asthma, Short stature ORPHA:634
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Cough, Restrictive ventilatory defect, Dyspnea, Emphysema, Pleural effusion ORPHA:36412
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Recurrent bronchitis, Restrictive ventilatory defect, Recurrent respir... ORPHA:1572
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... OMIM:614370
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary hypoplasia, Growth delay, Emphysema, Pulmonary artery stenosis, Tracheomalacia OMIM:613177
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... OMIM:300770
Lymphangioleiomyomatosis
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Recurrent respiratory infections, Restrictiv... ORPHA:538
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation OMIM:618042
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Respiratory insufficiency, Peripheral pulmonary artery stenosis,... ORPHA:90349
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema OMIM:614816
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Severe short stature, Recurrent respiratory infections, Emphysema, Delayed... OMIM:616835
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Bronchiectasis, Pulmonary arterial hypertension, Cough, Elevated bronchoalveolar lavag... OMIM:181000
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Recurrent respiratory infections, Decreased DLCO, Rest... OMIM:610910
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Tachypnea, Interlobular sep... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Nocardiosis
Productive cough, Pneumonia, Pneumothorax, Pleuritis, Respiratory distress, Nonproductive cough, ... ORPHA:31204
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Intrauterine growth retardation, Pulmonary hypoplasia, Postnatal growth ret... OMIM:616733
Keutel Syndrome
Sinusitis, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Chronic sinusitis, Pulmona... OMIM:245150
Immunodeficiency 54
Intrauterine growth retardation, Respiratory insufficiency, Short stature, Postnatal growth retar... OMIM:609981
Ellis Van Creveld Syndrome
Neonatal short-limb short stature, Emphysema, Intrauterine growth retardation, Aplasia/Hypoplasia... ORPHA:289
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intrauterine growth retardation, Respiratory insufficiency, Short stature, Growth delay, Tachypne... OMIM:613658
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Neonatal Marfan Syndrome
Hypoxemia, Neonatal respiratory distress, Emphysema ORPHA:284979
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia OMIM:219721
Ehlers-Danlos Syndrome, Vascular Type
Short stature, Pneumothorax, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Repeated pneum... OMIM:130050
Fabry Disease
Chronic pulmonary obstruction, Respiratory insufficiency, Short stature, Dyspnea, Emphysema, Dela... ORPHA:324
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Bronchiectasis, Bronchioli... ORPHA:90348
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema OMIM:614437
Sarcoidosis
Bronchiectasis, Pneumothorax, Cough, Upper airway obstruction, Abnormal lung morphology, Pulmonar... ORPHA:797
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax ORPHA:558
Marfan Syndrome
Pneumothorax, Emphysema, Pulmonary artery dilatation OMIM:154700
Familial Isolated Restrictive Cardiomyopathy
Pulmonary venous hypertension, Pulmonary edema, Recurrent respiratory infections, Orthopnea, Post... ORPHA:75249
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Intrauterine growth retardation, Proportionate short stature, Unilateral lung agenesis, Respirato... ORPHA:500150
Viss Syndrome
Pulmonary artery aneurysm, Short stature, Pneumothorax, Pulmonary arterial hypertension, Asthma, ... OMIM:619472
Sotos Syndrome
Pulmonary bleb, Small cell lung carcinoma ORPHA:821
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Respiratory insufficiency, 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
Fut8em1(IMPC)Wtsi Exon Deletion Mice
Fut8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
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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