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Gene: Rap1b MGI:894315

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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:
RAS related protein 1b
Synonyms:
2810443E11Rik

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 Rap1b 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 Rap1b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Thrombocytopenia, Pulmonic stenosis OMIM:620654

The table below shows human diseases predicted to be associated to Rap1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Glanzmann Thrombasthenia
Menometrorrhagia, Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following ci... ORPHA:849
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced plat... OMIM:155100
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:187950
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Hypertension, Raynaud phenomenon, Thrombocytopenia ORPHA:401945
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... OMIM:617443
Hemophilia B
Menometrorrhagia, Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneou... ORPHA:98879
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Abnor... OMIM:601399
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:153670
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Metrorrhagia, Abse... OMIM:614074
Slc35A1-Cdg
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Bruising susceptibility, Reduced platelet alpha granules, Petechiae, Thrombocytopenia,... OMIM:314050
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Myocardial infarction... ORPHA:182050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia ORPHA:231393
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... ORPHA:274
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Essential Thrombocythemia
Abnormality of thrombocytes, Prolonged bleeding time, Abnormal bleeding, Bruising susceptibility,... ORPHA:3318
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Prolonged bleeding time, Pulmonic stenosis ORPHA:638
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... OMIM:619172
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormality of the men... ORPHA:90308
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Wolfram Syndrome 2
Abnormal bleeding, Oligomenorrhea, Primary amenorrhea, Decreased circulating antibody level, Impa... OMIM:604928
Immunodeficiency 81
Petechiae, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced... OMIM:619374
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Pet... ORPHA:903
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Storage Pool Platelet Disease
Decreased mean platelet volume, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Bruising susceptibility, Thrombocytopenia, Intracranial hemorrhage, ... ORPHA:3226
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Ecchymosis, ... OMIM:203300
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprot... OMIM:603585
Mgat2-Cdg
Decreased circulating IgG level, Abnormal bleeding, Arrhythmia, Impaired platelet aggregation, De... ORPHA:79329
Sitosterolemia 1
Abnormal bleeding, Giant platelets, Thrombocytopenia, Impaired platelet aggregation OMIM:210250
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens... OMIM:608233
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Myocarditis, Purpura, Prolonged ble... ORPHA:809
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intr... ORPHA:324636
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Epistaxis, Gingival bleeding, Decreased specific anti-polysacchar... OMIM:301000
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time, Hypergonadotropic hypogonadism OMIM:613075
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time, Intrac... ORPHA:49566
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Intraventricular hemo... OMIM:619055
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Cardiomyopathy OMIM:616483
Relapsing Fever
Epistaxis, Hypotension, Abnormal bleeding, Thrombocytopenia, Prolonged prothrombin time, Tachycardia ORPHA:91547
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... ORPHA:99901
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure, Impaired platelet aggregation OMIM:241200
Noonan Syndrome 9
Prolonged prothrombin time, Pulmonic stenosis OMIM:616559
Monosomy 13Q34
Hematochezia, Epistaxis, Metrorrhagia, Prolonged prothrombin time, Pulmonic stenosis ORPHA:96168
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Thrombocytopenia, Prolonged ... ORPHA:64743
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Abnormal bleeding, Bruising s... ORPHA:167
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Prolonged prothrombin time, Death in infancy OMIM:613070
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Abnormal bleeding, Vaginitis, ... ORPHA:2968
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Noonan Syndrome
Abnormal bleeding, Bruising susceptibility, Abnormal EKG, Hypertrophic cardiomyopathy, Delayed me... ORPHA:648
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Arterial rupture, Mitral regurgitation, Abnormal heart valve physiology,... ORPHA:287
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Portal hypertension, Prolonged prothrombin time, Congestive heart failure ORPHA:367
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Death in infancy OMIM:617049
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Infantile Liver Failure Syndrome 3
Death in childhood, Prolonged prothrombin time OMIM:618641
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Cardiomyopathy, Decreased circulating IgA level, Death in childh... OMIM:212065
Pseudohypoparathyroidism Type 1A
Hypertension, Oligomenorrhea, Prolonged QT interval, Abnormal platelet function, Hypergonadotropi... ORPHA:79443
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Pulmonic stenosis OMIM:614300
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time ORPHA:244242
Cardiac-Urogenital Syndrome
Tachycardia, Prolonged bleeding time OMIM:618280
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Abnormal bleeding, Prolonged prothrombin time, Congestive heart failure OMIM:616271
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Thrombocytopenia, Death in childhood, Death in infancy OMIM:617941
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Prolonged ... OMIM:614921
Sialuria
Prolonged prothrombin time ORPHA:3166
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Prolonged QT interval, Prolonged prothrombin time, Dilated cardiomyo... ORPHA:71212
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Cardiomyopathy ORPHA:88618
Celiac Disease, Susceptibility To, 1
Infertility, Decreased circulating IgA level, Prolonged prothrombin time, Thrombocytosis OMIM:212750
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Capil... ORPHA:99826
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
Yellow Fever
Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Bradycardia, Excessive blee... ORPHA:99829
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Prolonged prothrombin time, Thrombocytosis, Cardiac arrest ORPHA:20
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Prolonged prothrombin time OMIM:618329
Hemophagocytic Lymphohistiocytosis, Familial, 1
Thrombocytopenia, Prolonged prothrombin time OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity, Thrombocytopenia, Prolonged prothrombin time OMIM:603553
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Kasabach-Merritt Phenomenon
Thrombocytopenia, Purpura, Petechiae, Prolonged prothrombin time ORPHA:2330
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage, Prolonged prothrombin time, Melena OMIM:276700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Portal hypertension, Prolonged prothrombin time ORPHA:309854
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... ORPHA:90062
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time, Congestive heart failure ORPHA:14
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Decreased circulating antibody level, Abnormal bleeding, Prolonged p... ORPHA:247598
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Portal hypertension, Polyclon... ORPHA:171
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Prolonged prothrombin time ORPHA:404454
Congenital Disorder Of Glycosylation, Type Iiw
Bleeding with minor or no trauma, Thrombocytopenia, Prolonged prothrombin time OMIM:619525
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Thrombocytopenia, Pulmonic stenosis OMIM:620654

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 Rap1b

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 Rap1b.

No publications found that use IMPC mice or data for Rap1b.

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MGI Allele Allele Type Produced
Rap1btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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