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Gene: Tbxas1 MGI:98497

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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:
thromboxane A synthase 1, platelet
Synonyms:
TXS,  TXAS,  CYP5,  CYP5A1

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 Tbxas1 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 Tbxas1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Ghosal Hematodiaphyseal Dysplasia
ORPHA:1802

The table below shows human diseases predicted to be associated to Tbxas1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet ... OMIM:617443
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Impaired ADP-induced plat... OMIM:155100
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... OMIM:139090
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal bleeding, Thrombocytopenia ORPHA:231393
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Impaired arac... OMIM:601399
Storage Pool Platelet Disease
Decreased mean platelet volume, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:153670
Slc35A1-Cdg
Pneumonia, Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abn... ORPHA:238459
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Bruising susceptibility, Reduced platelet alpha granules, Petechiae, Thrombocytopenia,... OMIM:314050
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Immunodeficiency 81
Petechiae, Skin rash, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferati... OMIM:619374
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Decreased platelet glycoprotein Ib-IX-V, Abnormal... ORPHA:274
Myh9-Related Disease
Nephritis, Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Congenital... ORPHA:182050
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Thrombocytopenia, ... OMIM:614074
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time, Skin rash ORPHA:1059
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... OMIM:619172
Essential Thrombocythemia
Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Abnormal platelet morpho... ORPHA:3318
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Abnormal bl... OMIM:604928
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Chronic otitis media, Bruising susceptibility, Thrombocytopenia, Int... ORPHA:3226
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Pet... ORPHA:903
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Sitosterolemia 1
Giant platelets, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Arthritis OMIM:210250
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Periodontitis, Enlarged platelet dense granules, Recurrent otitis media, Imp... OMIM:608233
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Abnormal platelet morphology, Purpura, Ch... ORPHA:906
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthriti... ORPHA:809
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Recurrent otitis media, Abnormal delayed ... OMIM:301000
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopen... OMIM:603585
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Supe... ORPHA:324636
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Abnormal bleeding, Impaire... ORPHA:79329
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Macs Syndrome
Recurrent aphthous stomatitis, Bruising susceptibility, Prolonged bleeding time, Bronchiectasis OMIM:613075
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Glomerulonephritis, Recurrent... ORPHA:2968
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Acquired Purpura Fulminans
Macular purpura, Skin rash, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, In... ORPHA:49566
Dermatosparaxis Ehlers-Danlos Syndrome
Esophagitis, Prolonged bleeding time ORPHA:1901
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Acquired Von Willebrand Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Subcutaneous hemorrhage, Intracr... ORPHA:99147
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time OMIM:214950
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Periodontitis, Abnormal bleed... ORPHA:167
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Relapsing Fever
Epistaxis, Thrombocytopenia, Abnormal bleeding, Prolonged prothrombin time ORPHA:91547
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Thrombocytopenia, Prolonged prothrombin time ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hepatitis, Prolonged prothrombin time OMIM:613812
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Recurrent aphthous stomatitis, Decreased circulating IgA level, Prolonged ... OMIM:212750
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Prolonged bleeding time, Osteoarthritis, Ecchymosis ORPHA:287
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Prolonged prothrombin time OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Prolonged prothrombin time ORPHA:79303
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, Infectious encephalitis, Thrombocytopenia, Prolonged prothrombin time, Reduced natural... OMIM:603553
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Prolonged prothrombin time ORPHA:99901
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Abnormal bleeding, Thrombocytopenia, Prolonged prothrombin time OMIM:616271
Sialuria
Prolonged prothrombin time ORPHA:3166
Hemophagocytic Lymphohistiocytosis, Familial, 1
Thrombocytopenia, Prolonged prothrombin time, Infectious encephalitis OMIM:267700
Pseudohypoparathyroidism Type 1A
Conjunctivitis, Abnormal platelet function ORPHA:79443
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Monosomy 13Q34
Hematochezia, Epistaxis, Prolonged prothrombin time ORPHA:96168
Noonan Syndrome
Abnormal bleeding, Abnormal platelet function, Bruising susceptibility ORPHA:648
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Alg12-Cdg
Recurrent pneumonia, Abnormal circulating IgM level, Complete or near-complete absence of specifi... ORPHA:79324
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatitis, Prolonged prothrombin time, Chronic hepatitis OMIM:614921
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Prolonged prothrombin time, Thr... OMIM:212065
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Hellp Syndrome
Thrombocytopenia, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Marburg Hemorrhagic Fever
Uveitis, Abnormal bleeding, Bruising susceptibility, Skin rash, Excessive bleeding after a venipu... ORPHA:99826
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Prolonged prothrombin time, Thrombocytosis ORPHA:20
Kasabach-Merritt Phenomenon
Thrombocytopenia, Purpura, Petechiae, Prolonged prothrombin time ORPHA:2330
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Prolonged prothrombin time OMIM:617941
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Yellow Fever
Abnormal bleeding, Skin rash, Excessive bleeding after a venipuncture, Hematemesis, Internal hemo... ORPHA:99829
Primary Sclerosing Cholangitis
Hepatitis, Pancreatitis, Polyclonal elevation of IgM, Prolonged prothrombin time, Ulcerative coli... ORPHA:171
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Hepatitis, Bruising susceptibility, Skin rash, Pr... ORPHA:90062
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Abetalipoproteinemia
Keratoconjunctivitis sicca, Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Decreased circulating antibody level, Abnormal bleeding, Prolonged p... ORPHA:247598
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Prolonged prothrombin time, Melena OMIM:276700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time ORPHA:309854
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Thrombocytopenia, Prolonged prothrombin time, Membranoproliferative glome... OMIM:619525
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Ghosal Hematodiaphyseal Dysplasia
ORPHA:1802

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 Tbxas1

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 Tbxas1.

No publications found that use IMPC mice or data for Tbxas1.

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
Tbxas1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tbxas1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tbxas1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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