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Gene: Itga4 MGI:96603

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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:
integrin alpha 4
Synonyms:
VLA-4 receptor, alpha 4 subunit

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 Itga4 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 Itga4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:615592
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida... OMIM:226990
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... OMIM:615401
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia, Au... OMIM:614470
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... OMIM:607271
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas... OMIM:608106
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... OMIM:613501
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, B lymphocytopenia, T lymphocytopenia, Lymphopenia, Absence of lymph node... ORPHA:277
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... OMIM:612692
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... OMIM:618108
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... OMIM:300853
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, Decreased... OMIM:301082
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Increased circulating antibody level, Lymphocytosis, Decreased proportion of C... ORPHA:169154
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... OMIM:618982
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Immunodeficiency 64 With Lymphoproliferation
Defective T cell proliferation, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly,... OMIM:618534
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... OMIM:619510
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... OMIM:601859
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Splenomegaly ORPHA:100024
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... OMIM:600802
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphade... ORPHA:444463
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... OMIM:619705
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... OMIM:613502
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... OMIM:240500
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegaly, Lymp... OMIM:242700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Absence of lymph node germinal center, Autoimmune hemolyt... OMIM:608184
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Cutaneous abscess, Decreased proportion of class-switched memory... OMIM:618944
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... OMIM:615285
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl... OMIM:619767
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia ORPHA:482
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir... ORPHA:331206
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... OMIM:618048
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, T lymphocytopenia, B lymphocytopenia, L... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr... OMIM:615559
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet... OMIM:301081
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Simplified gyral pattern, Abnormal natural killer cell morp... OMIM:615966
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:614069
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt... OMIM:617780
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Decreased T cell activation, Hemolytic anemia, Decreased circulating IgE, Impaired ... OMIM:308230
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Decrease... OMIM:619652
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... OMIM:613011
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Lymphopenia, Hepatosplenomegaly, Decreased circulating tota... ORPHA:169160
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, Lack of T cell function, T lymphocytopenia, Decreased circulating antib... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Decreased propor... ORPHA:276
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... OMIM:606367
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I... OMIM:618394
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG2 level, Absent spec... OMIM:102700
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... OMIM:619752
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Immunodeficiency 17
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... OMIM:615607
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell... ORPHA:443811
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Decreased circulating IgA level, Increased ... OMIM:242860
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lympho... OMIM:616433
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Reduction of neutrophil motility, Abnormally low T ... OMIM:608203
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Pancytop... ORPHA:79124
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R... OMIM:601495
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgE lev... OMIM:243700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Splenomegaly, Decreased circulating total IgM, B lymphocytopenia, Generalize... OMIM:614700
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ly... OMIM:618935
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... OMIM:615758
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... OMIM:258900
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadeno... ORPHA:353298
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen, Decreased proportion of CD4-positive h... ORPHA:543
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Monocytosis, Thrombocytopenia OMIM:619644
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level ORPHA:2268
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level ORPHA:100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... OMIM:616084
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 level, Acute lymphoblasti... OMIM:208900
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Left ventricular h... ORPHA:335
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... ORPHA:90362
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Thrombocytopenia, Spl... OMIM:617591
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Oligoclonal T cell expansion, Decreased prop... ORPHA:83471
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombo... OMIM:615934
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Decreased circulating antibody level, Lymphopenia, Impaired lymphocyte ... OMIM:243150
Hereditary Orotic Aciduria
Anemia, Impaired T cell function, Splenomegaly ORPHA:30
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... ORPHA:508542
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, C... ORPHA:2686
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Pancytopenia, Impaired T cell function, Thrombocytopenia, Decreased s... OMIM:614576
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Klippel-Trénaunay Syndrome
Pulmonary embolism, Congestive heart failure, Internal hemorrhage, Atrial septal defect, Gastroin... ORPHA:90308
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Ebola Hemorrhagic Fever
Increased circulating antibody level, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti... OMIM:301000
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Vici Syndrome
Leukopenia, Gray matter heterotopia, Decreased T cell activation, T lymphocytopenia, Decreased ci... OMIM:242840
Common Variable Immunodeficiency
Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Autoimmune thrombocytopenia,... ORPHA:1572
Trichothiodystrophy 3, Photosensitive
Neutropenia, Increased circulating IgA level, Lymphopenia OMIM:616395
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... ORPHA:760
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... OMIM:618213
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... ORPHA:221139
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Increased circulating IgE level, Increased circulating IgM level, ... OMIM:615816
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Agammaglobulinemia, Lymphopenia ORPHA:935
Immunodeficiency 55
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Schimke Immuno-Osseous Dysplasia
Anemia, Lymphopenia, Abnormal lymphocyte physiology, Impaired T cell function, Bone marrow hypoce... ORPHA:1830
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Decreased circulating total IgM, Lymphopenia, Severe B lymphocytopenia, Decreased circula... OMIM:620005
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Decreased circulating antibody level, Pancytopenia, Lymphopen... OMIM:242900
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, ... OMIM:127550
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Decreased ... ORPHA:293978
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating anti... ORPHA:508533
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time ORPHA:49566
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly OMIM:201100
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, B ... OMIM:619381
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Nijmegen Breakage Syndrome
T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc... OMIM:251260
Legionnaires Disease
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia ORPHA:549
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neutropenia OMIM:607944
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymph... OMIM:615688
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... ORPHA:391487
Whim Syndrome
Lymphadenitis, Abnormality of neutrophil morphology, Decreased circulating antibody level, Lympho... ORPHA:51636
Alg12-Cdg
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Immunodeficiency 58
Decreased T cell activation, Decreased circulating antibody level, Cutaneous abscess, Recurrent c... OMIM:618131
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology OMIM:618223
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Mirage Syndrome
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... ORPHA:99827
Cartilage-Hair Hypoplasia
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... OMIM:250250
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... ORPHA:906
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Polymicrogyria OMIM:619708
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Decreased cir... ORPHA:90363
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology, Generalized lymphadenopat... OMIM:181000
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Fusariosis
Brain abscess, Granuloma, Lung abscess, Lymphopenia, Abnormality of the spleen, Neutropenia ORPHA:228119
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia ORPHA:83617
Immunodeficiency 31C
Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... OMIM:614162
Syndromic Diarrhea
Hypoplasia of the thymus, Panhypogammaglobulinemia, Increased mean platelet volume, Lymphopenia, ... ORPHA:84064
Hennekam Syndrome
Decreased circulating antibody level, Lymphopenia, Lymphadenopathy, Pachygyria, Splenomegaly ORPHA:2136
Hemorrhagic Fever-Renal Syndrome
Hypotension, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, Epistaxi... ORPHA:340
Primary Sjögren Syndrome
Leukopenia, Decreased circulating antibody level, Increased circulating antibody level, Normocyti... ORPHA:289390
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Lymphopenia, Decreased proportion of CD4-positive T ce... OMIM:619573
Marburg Hemorrhagic Fever
Leukopenia, Increased circulating antibody level, Reticulocytosis, Lymphopenia, Lymphadenopathy, ... ORPHA:99826
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Reynolds Syndrome
Splenomegaly, Lymphopenia OMIM:613471
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Thrombocytopenia, Impaired T cell function, Splenomegaly ORPHA:567
Yellow Fever
Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Abnormal bleeding, Inter... ORPHA:99829
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia, Splenomegaly OMIM:188400

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 Itga4

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 Itga4.

No publications found that use IMPC mice or data for Itga4.

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MGI Allele Allele Type Produced
Itga4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Itga4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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