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Gene: Tapbp MGI:1201689

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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:
TAP binding protein
Synonyms:
TPN,  tapasin,  D17Wsu91e

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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 Tapbp 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 Tapbp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Thro... OMIM:613101
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Decreased proportion of CD4+CD25+ regulatory T cells, Reduced na... OMIM:619802
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced ... OMIM:616050
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, T lymph... ORPHA:277
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u... OMIM:620632
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618986
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... OMIM:619846
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Reduced natural killer cel... ORPHA:540
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... ORPHA:572
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Anemia, Thrombocyto... OMIM:603553
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... ORPHA:911
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Immunodeficiency 17
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... OMIM:615607
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... OMIM:603909
Selective Igm Deficiency
Decreased proportion of transitional B cells, Cutaneous abscess, Paraproteinemia, Decreased propo... ORPHA:331235
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Immunodeficiency 40
Thrombocytopenia, Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, T lympho... OMIM:616433
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Panhypogammaglobulinemia, Hepatosplenomegaly, Pancytopeni... ORPHA:79124
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:83471
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... OMIM:242840
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... OMIM:619381
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... OMIM:251260
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia OMIM:607944
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A... ORPHA:125
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia OMIM:618223
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level OMIM:181000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237

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 Tapbp

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 Tapbp.

There are 2 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) Tapbplem1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tapbplem1(IMPC)Wtsi PMC6671969

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MGI Allele Allele Type Produced
Tapbptm209269(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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