Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
carboxypeptidase B2 (plasma)
Synonyms:
thrombin-activatable fibrinolysis inhibitor,  CPU,  carboxypeptidase U,  TAFI,  1110032P04Rik,  carboxypeptidase R,  CPR,  4930405E17Rik

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 Cpb2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cpb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Pulmonary Fibrosis, Idiopathic
Pulmonary fibrosis, Alveolar cell carcinoma, Increased circulating antibody level, Elevated bronc... OMIM:178500
Pulmonary Hemosiderosis
Hemoptysis, Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Pulmonary fibrosis OMIM:615704
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Absent bronchoalveolar surfactant-protein C, Intraalveolar phospholip... OMIM:610921
Chronic Beryllium Disease
Ground-glass opacification, Pulmonary fibrosis, Reticulonodular pattern on pulmonary HRCT, Abnorm... ORPHA:133
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Interlobular septal thickening, Bronchiectas... ORPHA:79126
Immunodeficiency 60
Bronchiectasis, Pulmonary infiltrates, Decreased circulating IgE, Pulmonary fibrosis, Recurrent s... OMIM:618394
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Ground-glass opacification, Type II pneumocyte hyperplasia, Intraalveol... OMIM:610913
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Emphysema, Abnormal pulmonary interstitial ... OMIM:612387
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Cystic Fibrosis
Decreased circulating antibody level, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:586
Aspergillosis
Ground-glass opacification, Abnormal sputum, Increased circulating IgE level, Pleuritis, Bronchie... ORPHA:1163
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Nodular pattern on pulmonary HRCT ORPHA:60026
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Acute Lung Injury
Abnormality of serum cytokine level, Pneumonia, Abnormality of tumor necrosis factor secretion, I... ORPHA:178320
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Abnormal pleura morphology, Pulmonary fibrosis ORPHA:210136
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... OMIM:616414
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis OMIM:614742
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent upper respiratory tract infections, Decre... OMIM:613101
Antisynthetase Syndrome
Elevated circulating creatine kinase concentration, Abnormal pulmonary interstitial morphology, R... ORPHA:81
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Bro... OMIM:618986
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Pneumonia, Pleural empyema, Apical pulmonary opacity, Sinusitis, B... ORPHA:449280
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Tracheoesophageal fistula, Pulmonary fibrosis ORPHA:1839
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Pulmonary fibrosis, Parenchymal consolidation, Elevated bronchoalveol... OMIM:610978
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Braddock Syndrome
Laryngeal web, Pulmonary fibrosis ORPHA:52047
Polymyositis
Elevated circulating creatine kinase concentration, Abnormal pulmonary interstitial morphology, P... ORPHA:732
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction... OMIM:273800
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, He... ORPHA:90060
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Sting-Associated Vasculopathy, Infantile-Onset
Pulmonary fibrosis, Increased circulating IgG level, Elevated circulating C-reactive protein conc... OMIM:615934
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Pulmonary fibrosis ORPHA:457240
Felty Syndrome
Pleuritis, Pulmonary fibrosis, Sinusitis, Recurrent pneumonia, Recurrent pharyngitis, Recurrent r... ORPHA:47612
Riddle Syndrome
Recurrent pneumonia, Pulmonary fibrosis, Recurrent sinusitis, Bronchitis, Elevated alpha-fetoprot... ORPHA:420741
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Pulmonary fibrosis OMIM:203300
Mixed Connective Tissue Disease
Abnormal pulmonary interstitial morphology, Prolonged bleeding time, Pleuritis, Pulmonary fibrosis ORPHA:809
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, Abnormal serum interleukin level, Pulmonary fibrosis, Panhypogammaglobuline... ORPHA:79124
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time OMIM:614201
Chitayat Syndrome
Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia, Anteverted nares, Rec... OMIM:617180
Hermansky-Pudlak Syndrome 4
Pulmonary fibrosis OMIM:614073
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Pulmonary fibrosis, Impaired ADP-induced platelet aggregation, Wide nasa... OMIM:608233
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Bronchiolitis obliterans, Depre... OMIM:617241
Immunodeficiency 13
Bronchiectasis, Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusiti... OMIM:615518
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Elevated circulating C-reactive protein concentration, Pulmonary fibrosis OMIM:612852
Scleroderma
Elevated circulating creatine kinase concentration, Abnormal pulmonary interstitial morphology, P... ORPHA:801
Rajab Interstitial Lung Disease With Brain Calcifications 2
Abnormal pulmonary interstitial morphology, Hypoalbuminemia OMIM:619013
Immune-Mediated Necrotizing Myopathy
Elevated circulating creatine kinase concentration, Abnormal pulmonary interstitial morphology ORPHA:206569
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper respirator... OMIM:263000
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Pleural effusion, Pulmonary fibrosis OMIM:618935
Dyskeratosis Congenita, Autosomal Dominant 2
Pulmonary fibrosis OMIM:613989
Diffuse Cutaneous Systemic Sclerosis
Pulmonary infiltrates, Pulmonary fibrosis ORPHA:220393
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Intraalveolar phospholipid accumulation, Misalignment of the pulmonar... OMIM:265120
Juvenile Dermatomyositis
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:93672
Sebastian syndrome
Prolonged bleeding time OMIM:605249
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Abnormal pulmonary interstitial morphology, P... ORPHA:90291
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Recurrent pneumonia, Recurrent respiratory infections... ORPHA:209905
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Pulmonary fibrosis, Increased circulating antibody level, Emphysema, Pleural effu... OMIM:181000
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time OMIM:600208
Dyskeratosis Congenita, Autosomal Dominant 1
Pulmonary fibrosis, Interstitial pneumonitis OMIM:127550
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Decreased circulating ant... OMIM:615952
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Granulomatosis With Polyangiitis
Pleuritis, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Elevated circulating C-reacti... ORPHA:900
Dyskeratosis Congenita, Autosomal Recessive 1
Pulmonary fibrosis OMIM:224230
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Crazy paving pattern, Acute infectious pneumonia, Abnorm... ORPHA:264675
Wild Type Attr Amyloidosis
Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmonary edema ORPHA:330001
Dyskeratosis Congenita, Autosomal Dominant 3
Pulmonary fibrosis OMIM:613990
Thymoma
Abnormal pulmonary interstitial morphology, Decreased circulating antibody level, Abnormal pleura... ORPHA:99867
Typhoid
Abnormal pulmonary interstitial morphology ORPHA:99745
Erdheim-Chester Disease
Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmonary fibrosis ORPHA:35687
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time OMIM:231200
Storage Pool Platelet Disease
Prolonged bleeding time OMIM:185050
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time OMIM:188025
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Bronchiectasis, ... ORPHA:244
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid accumulation OMIM:615486
Gaucher Disease
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Elevated circul... ORPHA:355
Reactive Arthritis
Abnormal pleura morphology, Pulmonary fibrosis ORPHA:29207
Dermatomyositis
Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Diffuse reticular or finely nodul... ORPHA:221
Hermansky-Pudlak Syndrome
Pulmonary fibrosis ORPHA:79430
Al Amyloidosis
Increased circulating antibody level, Abnormal pulmonary interstitial morphology, Pulmonary inter... ORPHA:85443
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Pulmonary... OMIM:606367
Idiopathic Hypereosinophilic Syndrome
Pleural effusion, Pulmonary infiltrates, Pulmonary fibrosis ORPHA:3260
Fusariosis
Pulmonary opacity, Air crescent sign, Ground-glass opacification, Lung abscess, Bronchiectasis, P... ORPHA:228119
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired thrombin-induce... OMIM:139090
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Prolonged prothrombin time OMIM:613679
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Pneumonia, Hemoptysis ORPHA:97287
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617050
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Prolonged bleeding time OMIM:277480
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Pulmonary infiltrates OMIM:230800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time OMIM:314050
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Increased circulating antibody level ORPHA:77259
Slc35A1-Cdg
Pulmonary hemorrhage, Prolonged bleeding time, Pneumonia ORPHA:238459
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis ORPHA:2072
Sarcoidosis
Abnormal lung morphology, Bronchiectasis, Pulmonary fibrosis, Abnormal pleura morphology, Emphyse... ORPHA:797
Autoimmune Pulmonary Alveolar Proteinosis
Intraalveolar phospholipid accumulation, Crazy paving pattern, Abnormality of the upper respirato... ORPHA:747
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time OMIM:601399
Q Fever
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Pleural effusio... ORPHA:781
Dyskeratosis Congenita, X-Linked
Pulmonary fibrosis OMIM:305000
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema, Hypoalbuminemia OMIM:613658
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis ORPHA:3337
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Recurrent respi... ORPHA:77261
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Recurrent upper respiratory t... OMIM:614075
Autoimmune Polyendocrinopathy Type 4
Abnormal pulmonary interstitial morphology, Decreased circulating antibody level ORPHA:227990
Primary Sjögren Syndrome
Decreased circulating antibody level, Increased circulating antibody level, Bronchitis, Abnormal ... ORPHA:289390
Autoimmune Polyendocrinopathy Type 3
Abnormal pulmonary interstitial morphology, Decreased circulating antibody level ORPHA:227982
Wiskott-Aldrich Syndrome, Autosomal Dominant
Prolonged bleeding time, Increased circulating IgE level, Decreased specific anti-polysaccharide ... OMIM:600903
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Increased circulating IgM level, Pulmonary granulom... ORPHA:2442
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Hypoalbuminemia, Pr... OMIM:614748
Brucellosis
Lung abscess, Increased circulating IgM level, Pulmonary granulomatosis, Abnormal respiratory sys... ORPHA:1304
Farber Disease
Recurrent upper respiratory tract infections, Abnormal larynx morphology, Nodular pattern on pulm... ORPHA:333
Kikuchi-Fujimoto Disease
Abnormal pulmonary interstitial morphology, Pleural effusion, Elevated circulating C-reactive pro... ORPHA:50918
Aarskog Syndrome, Autosomal Dominant
Abnormal pulmonary interstitial morphology, Anteverted nares, Wide nasal bridge OMIM:100050
Kawasaki Disease
Abnormal pulmonary interstitial morphology, Recurrent pharyngitis ORPHA:2331
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Reticular pattern on pulmonary HRCT, Pulmonary ... OMIM:233450
Chronic Graft Versus Host Disease
Bronchiectasis, Pleural effusion, Bronchiolitis obliterans, Pulmonary infiltrates, Pneumothorax ORPHA:99921
Ehlers-Danlos Syndrome, Vascular Type
Spontaneous pneumothorax, Emphysema, Pulmonary bulla, Hemothorax, Nodular pattern on pulmonary HR... OMIM:130050
Niemann-Pick Disease Type B
Abnormal pulmonary interstitial morphology ORPHA:77293
Cryptococcosis
Pleural effusion, Pneumonia, Nodular pattern on pulmonary HRCT ORPHA:1546

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 Cpb2

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 Cpb2.

No publications found that use IMPC mice or data for Cpb2.

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MGI Allele Allele Type Produced
Cpb2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cpb2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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