Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
histocompatibility 2, class II, locus DMa
Synonyms:
H2-Ma,  H2-M alpha,  H-2Ma

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-DMa 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-DMa by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... ORPHA:90283
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... OMIM:606843
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... OMIM:300310
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... OMIM:614372
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... OMIM:618204
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, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... OMIM:608957
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... OMIM:619437
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... OMIM:601495
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Lack of T cell function, Recurrent herpes, Recurrent protozoan infections, Neutropen... ORPHA:572
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... ORPHA:331206
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Cutaneous anergy, Recurrent viral infections OMIM:114580
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Masp2 Deficiency
Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis OMIM:613791
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... OMIM:193670
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... OMIM:209920
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... OMIM:608184
Immunodeficiency 17
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Recurrent respiratory infec... OMIM:615607
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Recurrent opportunistic infections, Lack of T cell function, Recurrent otitis ... ORPHA:277
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Autoimmune Lymphoproliferative Syndrome
Platelet antibody positive, Neutropenia in presence of anti-neutropil antibodies, Increased circu... OMIM:601859
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... ORPHA:83471
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:243700
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity,... ORPHA:411593
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Antinuclear antibody positivity, Syst... OMIM:178610
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... ORPHA:319552
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Increased circulating antibody level, Recurrent otitis media, Autoimmune hemolytic ... OMIM:618495
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Decreased c... OMIM:308230
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Recurrent staphylococcal infections, Recu... OMIM:607676
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... OMIM:616005
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, B lymphocytopenia, Severe varicella zoster infection, Decreased c... OMIM:606367
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Rheumatoi... ORPHA:90280
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... ORPHA:331235
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, ... OMIM:617006
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmune thrombo... ORPHA:444463
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Impaired T cell function, Neu... OMIM:613179
Immunodeficiency 13
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Recurrent fun... OMIM:102700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... OMIM:600802
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... ORPHA:217390
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, B lymphocytopenia, Severe varicella zoster infection, Neutropenia, Pancytopenia, Leukopen... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive secondary to recurrent i... OMIM:601457
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Eosinophilopenia
Autoimmunity, Allergic rhinitis OMIM:131430
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Recurrent fungal infections, Recurrent viral i... OMIM:603554
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... OMIM:307200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Platelet antibody positive, Neutropenia in presence of anti-neutropil antibodies, Increased circu... OMIM:603909
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... ORPHA:183675
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... OMIM:617475
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... OMIM:618108
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 7
Autoimmunity OMIM:615387
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, E... OMIM:612840
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... ORPHA:221139
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Impaired oxidative burst, Recurrent p... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Impaired oxidative burst, Recurrent p... OMIM:233710
Immunodeficiency 23
Severe varicella zoster infection, Neutropenia, Eosinophilia, Abscess, Increased circulating IgG ... OMIM:615816
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... ORPHA:169090
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... OMIM:242700
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Impaired oxidative burst, Recurrent p... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Impaired oxidative burst, Recurrent p... OMIM:306400
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... OMIM:301000
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... OMIM:242840
Immunodeficiency 10
Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia OMIM:612783
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Neutropenia, Reduced natural killer cell activity, Chronic oral c... OMIM:608233
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... OMIM:603585
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent ear infections, Recurrent viral infections, Anemia, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... OMIM:612541
Pemphigus Erythematosus
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Mala... ORPHA:79480
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Sjogren Syndrome
Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... OMIM:116920
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, I... ORPHA:449400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Epidermodysplasia Verruciformis, Susceptibility To, 5
Persistent human papillomavirus infection, Cryptococcal meningitis, Lymphopenia, T lymphocytopenia OMIM:618309
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Immunodeficiency 68
Sepsis, B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count, Recurr... OMIM:612260
Whim Syndrome
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating antibody level, Mening... ORPHA:51636
Ch├ędiak-Higashi Syndrome
Recurrent bacterial infections, Abnormal natural killer cell morphology, Neutropenia, Abnormal pl... ORPHA:167
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Normocytic anemia, Decreased cir... OMIM:300972
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Recurrent infections, Abnormal dense granules, Giant neutrophil granules... OMIM:214500
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... OMIM:615952
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Autoimmunity ORPHA:703
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... OMIM:617053
Immunodeficiency 22
Autoimmunity, Panniculitis OMIM:615758
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... OMIM:610984
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Sepsis, Chronic neutropenia, Macrocytic anemia, Neutropenia, Panc... ORPHA:811
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Recurrent candida infections, Impaired T cell function OMIM:201100
Immunodeficiency 58
Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... OMIM:618131
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... OMIM:248500
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Recurrent fungal infec... OMIM:619573
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Recurrent aphthous stomatitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:3261
Sickle Cell Anemia
Recurrent bacterial infections, Leukocytosis, Splenomegaly, Increased red cell sickling tendency,... OMIM:603903
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Severe varicella zoster infection, Defective T cell proliferation, ... OMIM:618213
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Recurrent infections, Decreased specific anti-polysaccharide antibody l... OMIM:614576
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Splenomegaly ORPHA:36412
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Sepsis, Leukocytosis, Thrombocytosis, BCGosis, Polycythemia, Recu... ORPHA:2968
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Bone marrow hyp... ORPHA:1830
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Increased circulati... ORPHA:48435
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Hepat... ORPHA:227990
Progressive Multifocal Leukoencephalopathy
Meningitis, Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T c... ORPHA:217260
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating IgG4 level, Thyr... ORPHA:64744
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Hepat... ORPHA:227982
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function ORPHA:30
Primary Ciliary Dyskinesia
Asplenia, Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial inf... ORPHA:244
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Chromomycosis
Recurrent bacterial infections ORPHA:182
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Glycogen Storage Disease Ib
Recurrent bacterial infections, Neutropenia OMIM:232220
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Increased circulating interleukin 6, Abnormality of chemokine secret... ORPHA:544482
Lysinuric Protein Intolerance
Recurrent bacterial infections, Leukopenia, Decreased circulating antibody level, Anemia, Increas... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia, Chronic neutropenia ORPHA:79259
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
Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly OMIM:181000
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections ORPHA:2273
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
22Q11.2 Deletion Syndrome
Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Impaired T cell function ORPHA:567
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Abscess, Tooth abscess, Recurrent Staphylococcus aureus infections ORPHA:642
Digeorge Syndrome
Recurrent infections, Impaired T cell function OMIM:188400

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for H2-DMa

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-DMa.

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

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MGI Allele Allele Type Produced
H2-DMatm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
H2-DMatm115569(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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