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,  Qa-1,  Qa1,  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, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Antinuclear antibody p... OMIM:613495
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
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent infection of the gastrointestinal tract, Autoimmunity, Recurrent ... OMIM:137100
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Recurrent viral infections, Cutaneous anergy OMIM:114580
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 24
Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,... OMIM:615897
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract,... OMIM:609529
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent pneumonia, Decreased circulat... OMIM:613500
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Perinuclear antineutrophil antib... OMIM:614420
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... OMIM:608184
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Chronic decreased circulating total IgG, Recurrent sinusitis, Reduced iso... OMIM:613493
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
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati... OMIM:613502
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Immune Thrombocytopenia
Platelet antibody positive OMIM:188030
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio... OMIM:613501
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis, Systemic lupus erythe... OMIM:613779
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased circulating IgG level, Recurrent viral infections, Recurrent ... ORPHA:275
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni... OMIM:612692
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
C1Q Deficiency 1
Recurrent infections, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Persistent CMV vir... OMIM:300853
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Decreased circulating antibody level, Recurrent fungal infections, Re... OMIM:616873
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Cernunnos-Xlf Deficiency
Autoimmunity, Recurrent viral infections, Decreased circulating antibody level, Recurrent bacteri... ORPHA:169079
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent bronchitis, Neutropenia in presence of anti-neutropil antibodie... OMIM:607594
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis... OMIM:620449
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Autoimmun... ORPHA:98813
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Recurrent bacterial infect... OMIM:193670
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent urinary tract i... OMIM:209920
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Recurrent candida infections, Recurrent Staphylococcus aureus infect... ORPHA:572
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Decreased circulating antibody level, Agammaglobulinemia, Reduc... OMIM:615206
Reticular Dysgenesis
Sepsis, Lack of T cell function, Impaired T cell function OMIM:267500
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Increased circulating IgE level, Lack of T cell function, Anti-thyroid pe... ORPHA:277
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Wiskott-Aldrich Syndrome 2
Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Anti-smooth muscle antibody positi... OMIM:601859
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Re... OMIM:612783
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, Increased circulating IgA level, Anti-thyroglobulin antibody pos... OMIM:618048
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in... OMIM:618534
Immunodeficiency 66
Defective T cell proliferation, Sepsis, Meningitis OMIM:618847
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Persistent EBV... OMIM:614868
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Decreased circulating antibody level, Reduced antigen-... ORPHA:331206
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Anti-smooth muscle antibody positivity... OMIM:610163
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Abnorma... OMIM:615615
Immunodeficiency 115 With Autoinflammation
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Par... OMIM:620632
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Increased circulating IgG level,... ORPHA:276
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever... ORPHA:319552
Adult Idiopathic Neutropenia
Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Recurrent f... ORPHA:2688
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sepsis, Recurrent otitis media, Increased circulating IgG level, Autoimmunity, Increased circulat... OMIM:243700
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Dysgammaglobulinemia, Pneumocystis carinii pneumonia, Sepsis, Decreased... OMIM:308230
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased... OMIM:300291
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent CMV viremia, Persistent EBV viremia, Dec... OMIM:616005
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Onychomycosis, Decreased specific antibody response to vaccin... ORPHA:331235
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Increased circulating antibody level, Systemic lupu... ORPHA:411593
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent tonsillitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurren... ORPHA:183675
Eosinophilopenia
Autoimmunity OMIM:131430
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Persistent CMV viremia, Increased circulatin... OMIM:618495
Immunodeficiency 81
Autoimmune hemolytic anemia, Recurrent infections, Reduced antigen-specific T cell proliferation,... OMIM:619374
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurre... ORPHA:911
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Decreased cir... OMIM:601495
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Systemic lupus erythematosus, Autoimmunity, ... ORPHA:444463
Specific Granule Deficiency 1
Recurrent otitis media, Recurrent pneumonia, Impaired neutrophil bactericidal activity, Impaired ... OMIM:245480
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent infections, Decreased lymphocyte apoptosis, Autoi... OMIM:614470
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent urinary trac... OMIM:613179
Immunodeficiency 52
Defective T cell proliferation, Persistent CMV viremia, Recurrent infections, Persistent EBV vire... OMIM:617514
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Recurrent otitis media, Absent isohemagglutinin level, Increased cir... OMIM:615559
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, Re... ORPHA:397596
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Immunodeficiency 12
Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Complete or near-com... OMIM:615468
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Anti-smooth muscle antibody positi... OMIM:603909
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Combined Immunodeficiency Due To Crac Channel Dysfunction
Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infectio... ORPHA:169090
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Pyoderma, Panhypogammaglobulinemia, Recurrent urinary tract infections, M... OMIM:307200
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Recurrent bacterial infections, Increased circulating IgE level, Chr... OMIM:102700
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev... OMIM:615816
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Pgm3-Cdg
Sepsis, Increased circulating IgG level, Recurrent infections, Increased circulating IgE level, I... ORPHA:443811
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Autoimmunity, Increased circulating antibody level, Systemic lupus erythema... ORPHA:48377
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233710
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent infection of the gastrointestinal... ORPHA:486
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Persistent EBV vir... OMIM:615387
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233690
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Increased circulating IgE level, Increased circulating IgA level, Au... OMIM:620565
Specific Granule Deficiency 2
Sepsis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media OMIM:617475
Pemphigus Erythematosus
Anti-acetylcholine receptor antibody positivity, Autoimmunity, Antinuclear antibody positivity, S... ORPHA:79480
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Recurrent bronchopulmonary infections, Recurrent vira... OMIM:242700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, M... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Lack of T cell function, Partial IgA deficiency, Decreased circulating ... ORPHA:35078
Bullous Pemphigoid
Recurrent infections, Autoimmunity, Anti-BP230 antibody positivity, Anti-BP180 antibody positivity ORPHA:703
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Sepsis, Autoim... ORPHA:231154
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Recurrent bacterial infections OMIM:603585
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity OMIM:270150
Immunodeficiency 22
Chronic oral candidiasis, Decreased circulating IgE, Recurrent lower respiratory tract infections... OMIM:615758
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Chronic oral candidiasis, Recurrent urinary tract infections, Re... ORPHA:221139
Pemphigus Vulgaris
Recurrent infections, Anti-desmoglein-3 antibody positivity, Anti-desmoglein-1 antibody positivit... ORPHA:704
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Persistent EBV viremia, Recurrent infections, Decreased circulating ... OMIM:613011
Leukocyte Adhesion Deficiency, Type I
Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal infections, Rec... OMIM:116920
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Postinfectious Vasculitis
Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i... ORPHA:48435
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:306400
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent bacterial infections OMIM:612840
Immunodeficiency 58
Chronic mucocutaneous candidiasis, Decreased circulating antibody level, Onychomycosis, Decreased... OMIM:618131
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Meningitis, Recurrent bacterial infections ORPHA:36412
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Chronic oral candidiasis, Recurrent otitis media, Recurrent bacteria... OMIM:608233
Immunodeficiency 47
Decreased circulating total IgG, Recurrent infections, Chronic decreased circulating total IgG, D... OMIM:300972
Vici Syndrome
Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, Decreased ci... OMIM:242840
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Pe... OMIM:619573
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... OMIM:301000
Whim Syndrome
Sepsis, Decreased circulating antibody level, Recurrent pneumonia, Recurrent upper respiratory tr... ORPHA:51636
Omenn Syndrome
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:603554
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgE level,... OMIM:618213
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level, Recurrent bacterial infections OMIM:248500
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
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Recurrent infections, Abnormal platelet function, Recur... ORPHA:167
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections OMIM:617053
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Abnormal lymphocyte physiology, Impaired T cell function, Bone marrow hypoc... ORPHA:1830
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:66628
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Impaired T cell function OMIM:201100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:179494
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Chediak-Higashi Syndrome
Recurrent infections, Recurrent systemic pyogenic infections, Impaired neutrophil bactericidal ac... OMIM:214500
Chromomycosis
Recurrent bacterial infections ORPHA:182
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Neonatal sepsis, Recurrent lower respiratory tract infections, Recurrent urinary tract in... OMIM:612541
Patent Urachus
Recurrent urinary tract infections, Recurrent gram-negative bacterial infections ORPHA:431341
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Sepsis, Recurrent tonsillitis, Impaired platelet aggregation, BCGosis, ... ORPHA:2968
Shwachman-Diamond Syndrome
Sepsis, Bone marrow hypocellularity, Recurrent viral infections, Impaired neutrophil chemotaxis, ... ORPHA:811
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Lysinuric Protein Intolerance
Decreased circulating antibody level, Antinuclear antibody positivity, Increased circulating anti... ORPHA:470
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Cystic Fibrosis
Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus infections, Rec... ORPHA:586
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Increased circulating IgE l... OMIM:147060
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Orotic Aciduria
Impaired T cell function OMIM:258900
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
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
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
22Q11.2 Deletion Syndrome
Autoimmunity, Impaired T cell function ORPHA:567
Digeorge Syndrome
Recurrent otitis media, Recurrent infections, Impaired T cell function, Recurrent pneumonia, Recu... 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.

Order Mouse and ES Cells

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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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