Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
histocompatibility 2, T region locus 23
Synonyms:
37c,  T23d,  T18c(37),  H-2T23,  T23b,  37b,  Qa1,  Qa-1,  T18c,  Qed-1

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 H2-T23 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 H2-T23 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Antinuclear antibody positivity, Chronic decreased circulating to... OMIM:613495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... OMIM:615615
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Candidiasis, Familial, 1
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,... OMIM:613501
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... OMIM:614372
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Autoimmunity,... OMIM:137100
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... ORPHA:90283
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Recurrent sin... OMIM:609529
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Abnormal l... OMIM:613953
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Thrombocytopenic Purpura, Autoimmune
Platelet antibody positive OMIM:188030
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Systemic lupus erythematosus, Recurrent pneumonia, Recurrent tons... OMIM:613779
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Autoimmunity, Decreased circulating a... ORPHA:169079
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity, Recurrent infections OMIM:613652
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:614868
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Autoimmune thrombocytopenia, Severe varice... OMIM:300853
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections OMIM:615214
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Recurrent pro... ORPHA:572
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating antibody level, Decreased circulating IgG l... OMIM:193670
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:209920
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Recurrent upper respiratory tract infections, Recurrent opportunistic in... ORPHA:277
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media OMIM:616941
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Masp2 Deficiency
Systemic lupus erythematosus OMIM:613791
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections OMIM:614493
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Recurrent bacterial infections, ... OMIM:618048
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti... OMIM:607271
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Alopecia Areata 1
Autoimmunity OMIM:104000
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Thymic Aplasia
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Recurren... ORPHA:83471
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Smooth muscle antibody positivity,... OMIM:610163
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:331206
Immunodeficiency 66
Meningitis, Sepsis, Defective T cell proliferation OMIM:618847
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Inc... OMIM:243700
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:276
Immunodeficiency 7
Autoimmunity, Recurrent infections OMIM:615387
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:616005
Adult Idiopathic Neutropenia
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... ORPHA:2688
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Rheumatoid arthritis, Sepsis, S... ORPHA:331235
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Rheumatoid arthritis, Sepsis, Decreased circulating IgA level, Systemic lupus erythematosus, Recu... ORPHA:183675
Complement Component C1R/C1S Deficiency
Recurrent bronchitis, Autoimmunity OMIM:216950
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Increased circulating IgG level, Autoimmunity, Recurrent otit... OMIM:618495
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Recurrent otitis media, ... ORPHA:444463
Eosinophilopenia
Autoimmunity OMIM:131430
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... ORPHA:911
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... OMIM:619374
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... OMIM:601495
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Autoimmune thrombocytopenia, Decreased lymphocyte apoptosis... OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Anticardiolipin IgG antibody positivity, Absent isohemagglu... OMIM:615559
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Immunodeficiency, Common Variable, 10
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h... OMIM:615577
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Autoimmunity OMIM:617006
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent St... OMIM:147060
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... ORPHA:169090
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Immunodeficiency 96
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:603909
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... OMIM:307200
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent bacterial infections, Recurrent infections OMIM:612783
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Autoimmunity, Decreased circulating antibody level, Recurrent infections OMIM:617780
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Recurrent fungal infections, Absent specific antibody response, ... OMIM:102700
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233710
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Pgm3-Cdg
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Recurrent ... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... OMIM:600802
Immunodeficiency 23
Rheumatoid factor positive, Increased circulating IgG level, Severe varicella zoster infection, R... OMIM:615816
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Pemphigus Vulgaris
Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233690
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Antineutrophil... ORPHA:486
C3 Glomerulopathy
C3 nephritic factor positivity, Autoimmunity, Recurrent infections, Paraproteinemia ORPHA:329918
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... OMIM:242840
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity ORPHA:399180
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otitis media OMIM:617475
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Recurrent meni... OMIM:610984
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersensitivity, Recurrent pneu... OMIM:242700
Pemphigus Erythematosus
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... ORPHA:79480
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Recurrent upper respiratory tract infection... OMIM:615952
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity OMIM:270150
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating... OMIM:613011
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Autoim... ORPHA:231154
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocutaneous candid... OMIM:116920
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections OMIM:615758
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Autoimmunity ORPHA:98827
Postinfectious Vasculitis
Recurrent candida infections, Increased circulating antibody level, Recurrent streptococcus pneum... ORPHA:48435
Bullous Pemphigoid
Autoimmunity, Recurrent infections ORPHA:703
Omenn Syndrome
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:603554
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgG4 level, Autoimmunity, Cytoplasmic... ORPHA:449400
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:306400
Immunodeficiency 58
Onychomycosis, Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decre... OMIM:618131
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Recurrent bacterial infections, Reduced natural killer cell activity, I... OMIM:608233
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Autoimmunity ORPHA:36412
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Recurrent infections, Au... ORPHA:760
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:300972
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Whim Syndrome
Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Meningitis,... ORPHA:51636
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Anticardiolipin IgG antibody positivity, Perinuclear antineutrophil ... OMIM:619573
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Ch├ędiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent bacterial infections, Abnormal platelet function, ... ORPHA:167
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect... OMIM:614576
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Candida esophagitis, Increased circulating IgG level, Severe vari... OMIM:618213
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:66628
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections... OMIM:214500
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Impaired T cell function, Autoimmunity, Recurrent infections, Bon... ORPHA:1830
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Impaired T cell function OMIM:201100
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections OMIM:617053
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:179494
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Abnormality of neutrophil physiology, Chronic oral candidiasis, Recu... ORPHA:2968
Chromomycosis
Recurrent bacterial infections ORPHA:182
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respi... OMIM:612541
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media ORPHA:244
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Shwachman-Diamond Syndrome
Sepsis, Recurrent bacterial infections, Impaired neutrophil chemotaxis, Bone marrow hypocellulari... ORPHA:811
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Lysinuric Protein Intolerance
Increased circulating antibody level, Antinuclear antibody positivity, Recurrent bacterial infect... ORPHA:470
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Orotic Aciduria
Impaired T cell function OMIM:258900
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
22Q11.2 Deletion Syndrome
Impaired T cell function, Autoimmunity ORPHA:567
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Digeorge Syndrome
Impaired T cell function, Recurrent sinusitis, Recurrent pneumonia, Recurrent infections, Recurre... OMIM:188400
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections 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 H2-T23

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 H2-T23.

No publications found that use IMPC mice or data for H2-T23.

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MGI Allele Allele Type Produced
H2-T23tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
H2-T23tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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