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Gene: H2-DMa MGI:95921

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with H2-DMa (0 diseases)
Human diseases predicted to be associated with H2-DMa (215 diseases)

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	Matching phenotypes	Source
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve...	OMIM:615897
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	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 protozoan infections, Abnormality of T cell physiology,...	OMIM:308220
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Immunodeficiency 51	Recurrent respiratory infections, Abnormal lymphocyte physiology, Recurrent cutaneous fungal infe...	OMIM:613953
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Cernunnos-Xlf Deficiency	Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu...	ORPHA:169079
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib...	OMIM:614420
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut...	OMIM:607594
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe...	OMIM:608106
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection...	ORPHA:572
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenom...	OMIM:607624
Whim Syndrome 1	Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac...	OMIM:193670
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu...	OMIM:240500
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator...	OMIM:616005
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increased circu...	ORPHA:98813
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin...	ORPHA:169154
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr...	ORPHA:2688
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati...	OMIM:243700
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency 48	Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid...	OMIM:269840
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,...	OMIM:608184
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Immunoglobulin A Deficiency 2	Autoimmunity, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent bacterial meningitis, Reduc...	OMIM:300400
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu...	ORPHA:277
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ...	ORPHA:83471
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb...	ORPHA:911
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In...	OMIM:601859
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Immunodeficiency 19	Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp...	OMIM:615617
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch...	OMIM:613496
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro...	ORPHA:331235
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Recurre...	OMIM:618048
Immunodeficiency 67	Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc...	OMIM:610163
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r...	OMIM:613179
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulone...	OMIM:617006
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Hepatitis, Systemic lupus...	ORPHA:444463
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections...	ORPHA:217390
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:615518
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Recurrent respiratory infections, Pancytopenia, Decreased lympho...	OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa...	ORPHA:443811
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Immunodeficiency 12	Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent ...	OMIM:615468
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr...	ORPHA:486
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu...	OMIM:147060
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre...	OMIM:242700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Meningitis, Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to ...	OMIM:601457
Eosinophilopenia	Allergic rhinitis, Autoimmunity	OMIM:131430
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia...	OMIM:102700
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig...	OMIM:619774
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In...	OMIM:603909
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Recurrent respiratory infections, Persistent EBV viremia, T lymp...	OMIM:619510
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf...	OMIM:617475
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve...	OMIM:300291
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect...	ORPHA:183675
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc...	OMIM:615816
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b...	OMIM:612840
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233710
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ...	ORPHA:221139
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni...	OMIM:603554
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233690
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S...	ORPHA:169090
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve...	OMIM:300755
Wiskott-Aldrich Syndrome	Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Ab...	OMIM:301000
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote...	OMIM:603585
Immunodeficiency 10	Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections	OMIM:612783
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura...	OMIM:608233
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ...	OMIM:116920
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De...	OMIM:242840
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti...	ORPHA:449400
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:306400
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection	OMIM:618309
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte...	OMIM:612541
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease...	OMIM:300972
Immunodeficiency 68	Abscess, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnormal natural kil...	OMIM:612260
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi...	ORPHA:167
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo...	ORPHA:51636
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Roifman Syndrome	Eosinophilia, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomegaly, Recu...	ORPHA:353298
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Mirage Syndrome	Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, H...	OMIM:617053
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Immunodeficiency 22	Pericarditis, Autoimmunity, Decreased circulating total IgM, Panniculitis, Decreased circulating ...	OMIM:615758
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec...	OMIM:618131
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ...	OMIM:618213
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Decreased circulating antib...	OMIM:248500
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,...	OMIM:603903
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti...	OMIM:614576
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Recurrent infections,...	ORPHA:1830
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:179494
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Meningitis, Recurrent bacterial infections	ORPHA:36412
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s...	ORPHA:2968
Postinfectious Vasculitis	Persistent human papillomavirus infection, Increased circulating IgA level, Severe varicella zost...	ORPHA:48435
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c...	ORPHA:217260
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat...	ORPHA:508533
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen...	ORPHA:227990
Hereditary Orotic Aciduria	Splenomegaly, Recurrent respiratory infections, Anemia, Impaired T cell function	ORPHA:30
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Leukocytosis, Recurrent bacterial infections, Anemia	OMIM:615895
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re...	ORPHA:244
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Lysinuric Protein Intolerance	Hepatosplenomegaly, Anemia, Leukopenia, Decreased circulating antibody level, Recurrent bacterial...	ORPHA:470
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function, Recurrent candida infections	OMIM:201100
Glycogen Storage Disease Ib	Splenomegaly, Recurrent bacterial infections, Neutropenia	OMIM:232220
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Leukocytosis,...	ORPHA:544482
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Primary Sclerosing Cholangitis	Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Polyclonal ...	ORPHA:171
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia	ORPHA:79259
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Velocardiofacial Syndrome	Impaired T cell function, Recurrent infections	OMIM:192430
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Sarcoidosis, Susceptibility To, 1	Splenomegaly, Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology	OMIM:181000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections	ORPHA:2273
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function, Recurrent viral infections	OMIM:176690
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology, Psoriasiform dermatitis	ORPHA:2237
Digeorge Syndrome	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Hypopl...	OMIM:188400
22Q11.2 Deletion Syndrome	Splenomegaly, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia	ORPHA:567
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia	ORPHA:642

Histopathology

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

There is no histopathology data for 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.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
H2-DMa^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
H2-DMa^{tm115569(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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