Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
integrin, alpha D
Synonyms:
Cd11d

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 Itgad 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 Itgad by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections, Abnor... OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency 24
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... OMIM:615897
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent bacterial infections, Recurrent respiratory in... OMIM:613495
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... OMIM:605258
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... OMIM:267500
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent viral infections... OMIM:310350
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... OMIM:614372
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... OMIM:614493
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgE level, Re... OMIM:611521
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Recurrent bacterial infections, Decreased circulating IgA... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Recurrent b... OMIM:606843
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Decreased circulat... OMIM:613500
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Decreased proportion of class-... OMIM:613493
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent bacterial infections, Lymphopenia, Recurrent fungal infecti... OMIM:614868
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Neutropenia, Recurrent bacterial infections, Recurrent lower respi... OMIM:613501
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly, Recurrent infections OMIM:606445
Immunodeficiency 84
B lymphocytopenia, Persistent EBV viremia, Recurrent bacterial infections, Splenomegaly OMIM:619437
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Recurrent bacteria... OMIM:613502
Immunodeficiency, Common Variable, 2
Meningitis, Recurrent bacterial infections, Decreased circulating IgA level, Impaired T cell func... OMIM:240500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, BCGitis, Recurrent viral infections, Herpes sim... OMIM:614892
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating total IgM, Frequent Giardia lamblia infes... OMIM:300310
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Abs... OMIM:608957
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocy... OMIM:607624
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Recurrent bacterial infections,... OMIM:612692
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Recurrent infection of the g... OMIM:608184
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:300636
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
BCGosis, Abnormal circulating interleukin concentration, Severe toxoplasmosis, Lymphadenitis, Coc... ORPHA:319552
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 51
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Abnormal lymphocyte morpholo... OMIM:613953
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... OMIM:153600
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Decreased s... OMIM:300853
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Chronic (near) absent circu... OMIM:614699
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Decreased proportion of cla... OMIM:615513
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Immunodeficiency 48
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level OMIM:247800
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, B lymphocytopenia, Pancytopenia, De... OMIM:616873
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Recurrent ba... OMIM:202700
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:611926
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent tonsillitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613779
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Biliary tract abnormality, Cholangitis, Recurrent viral infec... OMIM:209920
Cernunnos-Xlf Deficiency
Recurrent viral infections, Anemia, Recurrent bacterial infections, Lymphopenia, Thrombocytopenia... ORPHA:169079
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Hepatomegaly, Recurrent herpes, Chronic oral candid... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic hepatitis, Recurrent lower respiratory tract infections, Hepatomegaly, ... OMIM:308230
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Enlarged kidney, Autoimmune thrombocytopenia, Recurrent bacteri... OMIM:613496
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Complement Factor B Deficiency
Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Persistent CMV viremia, Recurrent oral herp... OMIM:619220
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... OMIM:212050
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Hepatomegaly, T lymphocytopenia, Recurrent o... OMIM:608971
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 52
Persistent CMV viremia, Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells,... OMIM:617514
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Persistent CMV viremia, Chronic lymphatic leukemia, Re... OMIM:616005
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Recurrent staphylococcal infections, Transient ne... OMIM:607676
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Generalized lymphadenopathy, Recurrent mycobact... OMIM:615978
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Agammaglobulinemia 8A, Autosomal Dominant
Post-vaccination polio, Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia, Recurrent ... OMIM:616941
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Decreased proportion of CD3-positive T cells, Recurrent bacterial inf... ORPHA:275
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased circulating beta-2-microglobulin level, Recurrent herpes, Recurrent fungal infections, ... ORPHA:572
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent bacterial infections, Neutropenia, Lymphopenia, Recurren... ORPHA:2688
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Hepatomegaly, Recurrent fungal infections, Reduced ... ORPHA:331206
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Enlarged kidney, Anemia, Increased circulating antibody level, Extramedullary hematop... OMIM:615285
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Increased circulating IgA level, Increased circulating antibody level, Decrea... ORPHA:169154
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Decreased circulating total IgM, Disseminated molluscum conta... OMIM:243700
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Severe infection, Chronic oral candidiasis, Decreased proportion of naive T ... ORPHA:83471
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:601859
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... ORPHA:859
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Immunodeficiency 42
Hypoplasia of the thymus, BCGosis, Hepatomegaly, Chronic oral candidiasis, Recurrent cutaneous fu... OMIM:616622
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lymphopenia, B lymphocytopenia, Lack of T cell function, T lymph... ORPHA:277
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Sepsis, Recurrent bacteri... OMIM:612840
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Liver abscess, Impaired oxidative burst, Recurrent Serratia marcesc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Liver abscess, Impaired oxidative burst, Recurrent Serratia marcesc... OMIM:233710
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgA level, Autoimmune thrombocytopenia, Increased propo... OMIM:618534
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antibodies, Increas... OMIM:613179
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Recurrent viral infections, Recurrent bacterial skin infections, Autoimmune t... ORPHA:911
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Hemophagocytosis, Aplastic anemia, Sepsis, Hepatomegaly, Severe varicella zos... OMIM:615122
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Abnormal natural killer cell ... OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hemolytic anemia, Increased circulating antibody level, Leukemi... OMIM:614470
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... OMIM:618982
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Liver abscess, Impaired oxidative burst, Recurrent Serratia marcesc... OMIM:233690
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Hepatomegaly, Reduced natural killer cell activity, Fulminant hepatitis, Increa... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent lower respiratory tract infections, Reduced natural killer cell activity, Hepatomegaly,... OMIM:615559
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... OMIM:600802
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating t... OMIM:619802
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent respiratory infections, Persistent CMV viremia, Dec... OMIM:618495
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Recurrent viral infections, Anemia, Severe B lymphocyt... OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Decreased proportion of memory B cells, Recurrent viral infectio... OMIM:618048
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Meningitis, Hemolytic anemia, Sepsis, Recurrent bacterial infections,... ORPHA:169090
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Neutropenia, Recurrent bacter... OMIM:601495
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Hemophagocytosis, Aplastic anemia, Hepatomegaly, Hypertriglycer... OMIM:300635
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections, Agammaglobulinemia OMIM:619693
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618108
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Recurrent respiratory infections, Recurrent viral infections, Decreased speci... OMIM:606367
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Severe cytomegalovirus infection, Molluscum contagiosum, Recurre... OMIM:300291
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor... OMIM:242700
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... OMIM:619510
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... OMIM:619774
Selective Igm Deficiency
Recurrent shingles, Decreased specific antibody response to vaccination, Decreased proportion of ... ORPHA:331235
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Anemia, BCGitis, Hepatomegaly, Abnorm... OMIM:226990
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Abnormally low T cell receptor excision c... OMIM:619767
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent bacterial infections, Thrombocytopenia, Lymphadenopathy, R... OMIM:612783
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia OMIM:601457
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Abnormal macrophage morphology, Abnormal platelet function, Abn... ORPHA:2585
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent fungal infections,... OMIM:147060
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent shingles, Recurrent lower respiratory tract infections, Recurrent herpes, Severe infect... ORPHA:183675
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Leukocytosis, Intraalveolar phospholipid accumulation, Decrease... OMIM:618042
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:603909
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Meningitis, Enteroviral hepatitis, Recurrent enteroviral infe... OMIM:307200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Recurrent viral infections, Decreased circulating IgG2 level, Re... OMIM:102700
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Immunodeficiency 21
Myeloid leukemia, Recurrent viral infections, Aplastic anemia, Anemia, Lymphopenia, Reduced natur... OMIM:614172
Leukocyte Adhesion Deficiency, Type I
Recurrent infections, Leukocytosis, Recurrent bacterial infections, Recurrent staphylococcal infe... OMIM:116920
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... ORPHA:35078
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Decre... OMIM:613011
Immunodeficiency 12
Absent isohemagglutinin level, Recurrent viral infections, Abnormal lymphocyte count, Recurrent b... OMIM:615468
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Liver abscess, Impaired oxidative burst, Recurrent Serratia marcesc... OMIM:306400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Specific Granule Deficiency 2
Absent neutrophil specific granules, Anemia, Sepsis, Recurrent bacterial infections, Recurrent ot... OMIM:617475
Immunodeficiency 7
Recurrent respiratory infections, Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, C... OMIM:615387
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Neutrop... OMIM:301078
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent viral infections, Aplastic anemia, Recurrent ear in... ORPHA:486
Immunodeficiency 47
Cholestasis, Decreased circulating copper concentration, Hepatomegaly, Decreased circulating tota... OMIM:300972
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Sepsis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... ORPHA:169160
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2, Abnormal B cell morphology, Decre... OMIM:615607
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Neutropenia, Chronic oral candidiasis, Recurrent pneumonia, Lympha... OMIM:150550
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Recurrent bacterial i... OMIM:603903
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, BCGitis, Sepsis, Increased circulating IgE level, He... OMIM:602450
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Recurrent abscess formation, Recurrent bacterial inf... OMIM:608233
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Recurrent bacterial infections, Thromb... OMIM:603585
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Pgm3-Cdg
Hemolytic anemia, Decreased proportion of CD3-positive T cells, Recurrent fungal infections, Redu... ORPHA:443811
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent streptococcus pneumoniae infections, Recurrent meni... OMIM:610984
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Recurrent sinopulmonary infections, Decreased circulating... OMIM:618394
Ch├ędiak-Higashi Syndrome
Vacuolated lymphocytes, Hemophagocytosis, Recurrent streptococcal infections, Recurrent infection... ORPHA:167
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Molluscum contagiosum, Increased circulating ... OMIM:615816
Chediak-Higashi Syndrome
Giant neutrophil granules, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Recurrent bacterial sk... OMIM:214500
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Leukocytosis, Anemia, Cholestasis, Hepatic fibrosis, Recurrent bacterial infecti... OMIM:615895
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Impaired oxidative burst, Hemolytic anemia, Lymphadeni... OMIM:618935
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Recurrent respiratory infections, Neonatal sepsis, Hepatosple... OMIM:612541
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Decreased circulating total IgM, Recurrent viral infections, ... ORPHA:221139
Orotic Aciduria
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... OMIM:258900
Hypocomplementemic Urticarial Vasculitis
Meningitis, Recurrent bacterial infections, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites ORPHA:36412
Mirage Syndrome
Recurrent urinary tract infections, Hypoplastic spleen, Leukopenia, Anemia, Sepsis, Recurrent bac... OMIM:617053
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... OMIM:301000
Kenny-Caffey Syndrome, Type 1
Anemia, Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Whim Syndrome
Meningitis, Sepsis, Recurrent bacterial infections, Lymphopenia, Lymphadenitis, Recurrent pneumon... ORPHA:51636
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatomegaly, Recurrent b... OMIM:232220
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Leukopenia, Decreased circulating I... OMIM:242840
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... ORPHA:2442
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Recurrent bacterial infections, Hepatomegaly, Decreased circulating antib... OMIM:248500
Postinfectious Vasculitis
Increased circulating IgA level, Recurrent streptococcus pneumoniae infections, Persistent human ... ORPHA:48435
Immunodeficiency 87 And Autoimmunity
Hemolytic anemia, Cholestasis, Hepatomegaly, Hypokalemia, Recurrent fungal infections, Recurrent ... OMIM:619573
Shwachman-Diamond Syndrome
Hepatomegaly, Macrocytic anemia, Acute myeloid leukemia, Pancreatic hypoplasia, Leukopenia, Normo... ORPHA:811
Lysinuric Protein Intolerance
Hemophagocytosis, Hyperalaninemia, Hepatomegaly, Hepatosplenomegaly, Increased LDL cholesterol co... ORPHA:470
Roifman Syndrome
Hepatosplenomegaly, Decreased T cell activation, Decreased circulating antibody level, Eosinophilia ORPHA:353298
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Anemia, Bone marrow hypocellularity, Lymphopenia, Impa... ORPHA:1830
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Polysplenia, Recurrent otitis media, Recurrent myco... ORPHA:244
Chromomycosis
Recurrent bacterial infections, Lymphangiectasis ORPHA:182
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholelithiasis, Hepa... ORPHA:171
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Thrombocytopenia... OMIM:614576
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Recurrent tonsillitis, Peritonitis, Leukocytosis, Polycythemi... ORPHA:2968
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Recurrent bacterial infections ORPHA:2176
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased circulating total IgM, Increased circulating IgE level, Lymphopenia,... ORPHA:508533
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Hepatocellular carcinoma, Hyperuricemia, Enlarged kidney, ... ORPHA:79259
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Cystic Fibrosis
Recurrent respiratory infections, Abnormality of the liver, Cirrhosis, Recurrent Staphylococcus a... ORPHA:586
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased specific antibody response to vaccination, Cutan... OMIM:618131
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Increased circulating antibody level, Splenomegaly OMIM:181000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Impaired T cell function ORPHA:567
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Hypoplasia of the thymus, Anemia, Impaired T cell function, Thrombocytopenia, Splenomegaly OMIM:188400
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Anemia ORPHA:642

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 Itgad

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 Itgad.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Itgadtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Itgadtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itgadtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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