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.

The table below shows human diseases associated to H2-T23 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asthma, Susceptibility To
OMIM:600807

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, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
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 bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Immunodeficiency 18
Recurrent respiratory infections, Recurrent otitis media, Defective T cell proliferation, Recurre... OMIM:615615
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Cutaneous anergy, Recurrent viral infections OMIM:114580
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:613501
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... OMIM:614372
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... OMIM:137100
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... OMIM:300310
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio... OMIM:606843
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Autoimmunity, Recurrent infe... OMIM:609529
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... OMIM:608184
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
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 bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Autoimmunity, Impaired T cell function, Decreased circulating IgA... OMIM:240500
Thrombocytopenic Purpura, Autoimmune
Platelet antibody positive OMIM:188030
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu... ORPHA:275
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Recurrent urinary tract infections, Increased circulating a... OMIM:618495
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent viral infections, Decreased circulating a... ORPHA:169079
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Systemic lupus erythematosus OMIM:613779
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Recurrent infections OMIM:613652
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:607594
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections OMIM:615214
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmunity, ... ORPHA:572
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... OMIM:209920
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l... OMIM:193670
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Decreased circulating antibody level, Recurre... OMIM:601495
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Recurrent opportunistic infections, La... ORPHA:277
Reticular Dysgenesis
Sepsis, Lack of T cell function, Impaired T cell function OMIM:267500
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi... OMIM:178610
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Masp2 Deficiency
Systemic lupus erythematosus OMIM:613791
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections OMIM:614493
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Autoimmune Lymphoproliferative Syndrome
Platelet antibody positive, Neutropenia in presence of anti-neutropil antibodies, Decreased lymph... OMIM:601859
Immunodeficiency 36
Recurrent bacterial infections, Autoimmunity, Recurrent respiratory infections, Decreased circula... OMIM:616005
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Alopecia Areata 1
Autoimmunity OMIM:104000
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Defective T cell proliferation, Increased circulatin... OMIM:618534
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Autoim... ORPHA:83471
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... OMIM:607676
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... ORPHA:319552
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Autoimmunity, Decreased circulating IgA level, Recurrent fungal i... ORPHA:331206
Immunodeficiency 66
Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Dec... ORPHA:276
Immunodeficiency 7
Autoimmunity, Recurrent infections OMIM:615387
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:243700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Selective Igm Deficiency
Sepsis, Autoimmunity, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presenc... ORPHA:331235
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus, Increased circulating... ORPHA:411593
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Autoimmunity, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent... ORPHA:183675
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Impaired T cell function, Neu... OMIM:613179
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis OMIM:216950
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Impaired memory B cell g... OMIM:308230
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Systemic lupus erythematosus, Recurrent otitis media, Autoimmune thrombocytopenia, ... ORPHA:444463
Eosinophilopenia
Autoimmunity OMIM:131430
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... OMIM:619374
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Decreased circulating IgA level, Recurrent viral upp... OMIM:615577
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Decreased lymphocyte apoptosis, Recurrent infections, Increased circulating antibod... OMIM:614470
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Reduced natural killer cell activity, Recurrent otitis media, Recurrent infections,... OMIM:615559
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Severe varicella zoster infection, Decreased circulating IgA leve... OMIM:606367
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Autoimmunity, Recurrent fungal infections, Recurrent vira... ORPHA:169090
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Autoimmune Lymphoproliferative Syndrome, Type Iia
Platelet antibody positive, Neutropenia in presence of anti-neutropil antibodies, Decreased lymph... OMIM:603909
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections, Autoimmune hemolytic anemia OMIM:612783
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... OMIM:307200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Rec... OMIM:102700
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Rheumatoid factor positive, Increased circulating IgG level, Rec... OMIM:619632
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Rheumatoid arth... ORPHA:48377
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Recurrent pneumonia, Decreased circulating antibody level, Recurrent infections OMIM:617780
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... OMIM:233710
Pgm3-Cdg
Recurrent bacterial infections, Sepsis, Autoimmunity, Neutropenia in presence of anti-neutropil a... ORPHA:443811
Immunodeficiency 31C
Autoimmunity, Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Autoimmune hem... OMIM:614162
Pemphigus Vulgaris
Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in response to anti-... OMIM:600802
Immunodeficiency 23
Severe varicella zoster infection, Increased circulating IgG level, Chronic mucocutaneous candidi... OMIM:615816
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent ear ... ORPHA:486
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Lack of T cell function, Recurrent opportunist... ORPHA:35078
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... OMIM:306400
C3 Glomerulopathy
Autoimmunity, Paraproteinemia, Recurrent infections, C3 nephritic factor positivity ORPHA:329918
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis ORPHA:399180
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... OMIM:242840
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent otitis media, Recurrent pneumonia OMIM:617475
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Pemphigus Erythematosus
Autoimmunity, Systemic lupus erythematosus, Antinuclear antibody positivity, Anti-acetylcholine r... ORPHA:79480
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibod... OMIM:615952
Lymphoproliferative Syndrome 1
Autoimmunity, Decreased circulating IgG level, Decreased circulating antibody level, Recurrent in... OMIM:613011
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Autoimmunity, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... ORPHA:231154
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Decreased circulating total IgA, Decreased specific antibody resp... ORPHA:221139
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... OMIM:610984
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... OMIM:617241
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyo... OMIM:242700
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Recurrent bacterial infections OMIM:603585
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections OMIM:615758
Unclassified Myelodysplastic Syndrome
Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Impaired T cell function OMIM:201100
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Increased circulati... ORPHA:48435
Bullous Pemphigoid
Autoimmunity, Recurrent infections ORPHA:703
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent gram-negative bact... OMIM:116920
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, I... ORPHA:449400
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Reduced natural killer cell activity, Chronic oral candidiasis, R... OMIM:608233
Immunodeficiency 58
Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... OMIM:618131
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Autoimmunity ORPHA:36412
Purine Nucleoside Phosphorylase Deficiency
Autoimmunity, Systemic lupus erythematosus, Recurrent infections, Autoimmune thrombocytopenia, Re... ORPHA:760
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Wiskott-Aldrich Syndrome
Sepsis, Recurrent herpes, Increased circulating IgA level, Recurrent otitis media, Abnormal delay... OMIM:301000
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating total IgG,... OMIM:300972
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Recurrent fungal infec... OMIM:619573
Whim Syndrome
Recurrent bacterial infections, Sepsis, Decreased circulating antibody level, Meningitis, Recurre... ORPHA:51636
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased specific ... OMIM:600903
Ch├ędiak-Higashi Syndrome
Recurrent bacterial infections, Abnormal platelet function, Recurrent infections, Recurrent staph... ORPHA:167
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Decreased specific anti-polysaccharide antibody level, Impaired T cell func... OMIM:614576
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Recurrent respiratory infections OMIM:612541
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Impaired neutrophil bactericidal activity, Recurrent infecti... OMIM:214500
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Impaired T cell function, Bone marrow hypocellularity, Recurrent infections, Abnorm... ORPHA:1830
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Severe varicella zoster infection, Defective T cell proliferation, Increased circulating IgG leve... OMIM:618213
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation ORPHA:66628
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Sepsis, BCGosis, Recurrent fungal infections, Chronic oral candid... ORPHA:2968
Chromomycosis
Recurrent bacterial infections ORPHA:182
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections OMIM:617053
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation ORPHA:179494
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial infections ORPHA:244
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Sepsis, Recurrent viral infections, Bone marrow hypocellularity, ... ORPHA:811
Lysinuric Protein Intolerance
Recurrent bacterial infections, Increased circulating antibody level, Decreased circulating antib... ORPHA:470
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Orotic Aciduria
Impaired T cell function OMIM:258900
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 respiratory infections, Recurrent infections ORPHA:2273
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Digeorge Syndrome
Recurrent infections, Impaired T cell function OMIM:188400
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
22Q11.2 Deletion Syndrome
Autoimmunity, Impaired T cell function ORPHA:567
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642
Asthma, Susceptibility To
OMIM:600807

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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