Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
purinergic receptor P2Y, G-protein coupled 12
Synonyms:
2900079B22Rik,  P2Y12,  4921504D23Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 P2ry12 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 P2ry12 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... OMIM:609821

The table below shows human diseases predicted to be associated to P2ry12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Thrombocythemia 1
Thrombocytosis, Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet agg... OMIM:187950
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... OMIM:124900
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... OMIM:609821
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time OMIM:608404
Platelet Disorder, Undefined
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... OMIM:614009
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function ORPHA:231393
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... OMIM:173470
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... OMIM:187800
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... OMIM:605735
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Me... OMIM:155100
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... OMIM:601709
Factor V Deficiency
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... OMIM:227400
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Menor... OMIM:139090
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... OMIM:187900
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Bruising susceptibility, Impaired platelet aggregation, Abnormal ... OMIM:601399
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:617443
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Von Willebrand Disease, Type 1
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... OMIM:193400
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... OMIM:614072
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility OMIM:614076
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Thrombocytopenia, Epistaxis, Prolonged bleeding time OMIM:314050
Slc35A1-Cdg
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Giant platelets, Thrombocytopen... ORPHA:238459
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Fechtner syndrome
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Giant platelets, Thrombocytopenia, Prolo... OMIM:153640
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... OMIM:614074
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... ORPHA:274
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... OMIM:614075
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Petechiae, Impaired neutrophil chemotaxis, Reduce... OMIM:619374
Myh9-Related Disease
Bruising susceptibility, Menorrhagia, Congenital thrombocytopenia, Increased mean platelet volume... ORPHA:182050
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... OMIM:619172
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... OMIM:614077
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Abnormal platelet morphology, Thrombocytopenia OMIM:300835
Essential Thrombocythemia
Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time ORPHA:3318
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Wolfram Syndrome 2
Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... OMIM:604928
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Macrothrombocytopenia, Thrombocytopenia, Decreased... OMIM:603585
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Intracranial hemorrhage, Bone marrow hypocellularity, Thrombocytopenia, ... ORPHA:3226
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding time ORPHA:90308
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Sitosterolemia 1
Abnormal bleeding, Impaired platelet aggregation, Giant platelets, Thrombocytopenia OMIM:210250
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Epistaxis, Prolonged prothrombin time OMIM:610842
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Hematochezia, Gingival bleeding, Ecchymosis, Epistaxis, Prolonged bleedi... OMIM:203300
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... ORPHA:324636
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Reduced natural killer cell activity, Impaired ADP-induced plat... OMIM:608233
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Mgat2-Cdg
Decreased circulating antibody level, Abnormal bleeding, Impaired platelet aggregation, Decreased... ORPHA:79329
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Intracrania... ORPHA:906
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Melena, Petechiae, Increased circulating I... OMIM:301000
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Purpura, Prolonged bleeding time ORPHA:809
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Thrombocytopenia, Prolonged prothr... ORPHA:49566
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Chédiak-Higashi Syndrome
Bruising susceptibility, Abnormal bleeding, Abnormal platelet function, Increased proportion of C... ORPHA:167
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Persistent bleeding after trauma, Subcutaneous hemorrhage, Bruising sus... ORPHA:99147
Noonan Syndrome
Abnormal bleeding, Abnormal platelet function ORPHA:648
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Abnormal bleeding, Impaired neutrophil chemotaxis, Thromboc... ORPHA:2968
Relapsing Fever
Abnormal bleeding, Thrombocytopenia, Epistaxis, Prolonged prothrombin time ORPHA:91547
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Thrombocytopenia, Prolonged prothrombin time ORPHA:64743
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Prolonged prothrombin time OMIM:613070
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Prolonged prothrombin time, Cerebellar hemorrhage ORPHA:99901
Sialuria
Prolonged prothrombin time ORPHA:3166
Classical Ehlers-Danlos Syndrome
Ecchymosis, Bruising susceptibility, Prolonged bleeding time ORPHA:287
Monosomy 13Q34
Epistaxis, Prolonged prothrombin time, Hematochezia ORPHA:96168
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Thrombocytopenia, Prolonged prothrombin time OMIM:616271
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Hellp Syndrome
Thrombocytopenia, Prolonged prothrombin time, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Hemophagocytic Lymphohistiocytosis, Familial, 1
Thrombocytopenia, Prolonged prothrombin time OMIM:267700
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Prolonged prothrombin time OMIM:617941
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity, Thrombocytopenia, Prolonged prothrombin time OMIM:603553
Kasabach-Merritt Syndrome
Purpura, Thrombocytopenia, Prolonged prothrombin time, Petechiae ORPHA:2330
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Decreased circulating IgA level, Prolonged prothrombin time OMIM:212750
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgA level, Decreased circulating IgG level, Prolonged proth... OMIM:212065
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Prolonged prothrombin time ORPHA:20
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time ORPHA:309854
Yellow Fever
Hematemesis, Excessive bleeding after a venipuncture, Abnormal bleeding, Increased circulating Ig... ORPHA:99829
Tyrosinemia, Type I
Melena, Gastrointestinal hemorrhage, Prolonged prothrombin time OMIM:276700
Marburg Hemorrhagic Fever
Increased circulating antibody level, Petechiae, Excessive bleeding after a venipuncture, Bruisin... ORPHA:99826
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Decreased circulating antibody level, Prolonged p... ORPHA:247598
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Acute Liver Failure
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Gastrointestinal hemorrhage,... ORPHA:90062
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Prolonged prothrombin time ORPHA:171
Congenital Disorder Of Glycosylation, Type Iiw
Thrombocytopenia, Prolonged prothrombin time, Bleeding with minor or no trauma OMIM:619525

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 P2ry12

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 P2ry12.

No publications found that use IMPC mice or data for P2ry12.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
P2ry12tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter