Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
diacylglycerol kinase zeta
Synonyms:
mDGK[z],  E130307B02Rik

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 Dgkz 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 Dgkz by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection... OMIM:614493
Immunodeficiency 112
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... OMIM:620449
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Antinuclear antibody positivity, ... OMIM:613495
Immunodeficiency 48
Recurrent candida infections, Impaired lymphocyte transformation with phytohemagglutinin, Panhypo... OMIM:269840
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Decreas... OMIM:615615
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr... OMIM:616452
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Antinuclear antibody pos... OMIM:615559
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Monocyte Chemotactic Disorder
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:252250
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Recurrent infections, Decreas... OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Recurrent otitis media, Abnormal immunoglobulin level, Recurrent bacterial infections... ORPHA:98813
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:603909
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent ear infections, Increased propor... OMIM:615513
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... OMIM:607271
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Neutropenia in pre... OMIM:607594
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell m... OMIM:616911
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... ORPHA:331235
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
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, Ski... ORPHA:572
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Abnormal natural killer cell count, Abnormal proportion of CD8-positive... OMIM:212050
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Recurrent viral infections, Cutaneous anergy OMIM:114580
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Immunodeficiency 116
Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi... OMIM:608957
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent bacterial infections, Partial absence of specific antibody resp... OMIM:240500
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T... OMIM:267500
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in... OMIM:618534
Immunodeficiency 11A
Decreased circulating antibody level, Agammaglobulinemia, Reduced antigen-specific T cell prolife... OMIM:615206
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... OMIM:300988
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation... ORPHA:911
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo... OMIM:615607
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt... OMIM:233650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... OMIM:300400
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Anti-smooth muscle antibody positi... OMIM:601859
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Decr... OMIM:612692
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Complete or nea... OMIM:620282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Reduced antigen-specific T cell prolifer... ORPHA:331206
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Reduced circulating interleukin 23 concentration, Reduced circulat... OMIM:619632
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Recurrent pharyngitis, Elevated circulating C-reactive pro... OMIM:308240
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Eczematoid dermatitis, T lymphocytopenia, Decreased circulating IgG le... OMIM:619510
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, Polyarticular arthritis, B lymphocytopenia, Leukocytosis, Decreased ... OMIM:619281
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgG level, B lymphoc... OMIM:618048
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Anti-smooth muscle antibody positivity... OMIM:610163
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Complete or near-complete absence of specific antibody response... OMIM:613496
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... OMIM:616098
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Increased circulating IgE ... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas... OMIM:619824
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Recurrent viral infections... OMIM:616873
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level... OMIM:241600
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infections,... OMIM:209920
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... OMIM:301000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Hyperhomocystinemia, Recurrent infections, Pancytopenia, Megaloblastic anemia,... OMIM:617780
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Recurrent tonsillitis, Arthritis, B lymphocytopenia, Decreased circulatin... ORPHA:397596
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Recurrent bacterial infections, Hepatosplenom... OMIM:607624
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Crohn's diseas... OMIM:616100
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Elevated circulating C-reactiv... ORPHA:85435
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Elevat... ORPHA:158061
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Osteoporosis, Splenomegaly, Abnormal B cell count, ... ORPHA:100024
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Perinuclear a... OMIM:618394
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Abnormally low T cell receptor excision circle level,... OMIM:242700
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, A... ORPHA:83471
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Recurrent sinusitis, Reduced natural killer cell count, Allergic rhinitis... OMIM:243700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating IgG level, Recurrent u... OMIM:618495
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Splenomegaly, Lymphopenia, Increased circulating guanosine concentration, Decreased ly... OMIM:613179
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti... OMIM:614069
Autoinflammatory Disease, Systemic, With Vasculitis
Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Increased circulating interleu... OMIM:620376
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Hemolytic anemia, Splenomegaly... OMIM:614470
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Recurrent bac... OMIM:619693
C1Q Deficiency 2
Sepsis, Recurrent otitis media, Anemia, Recurrent lower respiratory tract infections, Elevated ci... OMIM:620321
Immunodeficiency 22
Chronic oral candidiasis, Panniculitis, Decreased circulating IgE, Recurrent lower respiratory tr... OMIM:615758
Immunodeficiency 92
Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Thrombocytosis, Lymphocytosis... OMIM:619652
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis OMIM:618847
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Crohn's disease, B lymphocytopenia, Decrea... OMIM:619705
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Recurrent abscess formation, Anemia, Panhypo... ORPHA:79124
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, Optic neuritis, Complete or near-complete absence of specific antibody response to ... OMIM:301081
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... OMIM:601495
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Recur... OMIM:618806
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... OMIM:307200
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ... ORPHA:33110
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Pyoderma, Enterov... OMIM:300755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Hypertriglyceridemia, Increased circulating interleu... ORPHA:540
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elevated circulating C-reactive protein concentration, Pancytopenia, Sterile abscess, Arthr... OMIM:604416
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Recurrent aphthous... OMIM:301078
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Bronchiolitis, E... OMIM:614878
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Recurrent sinusitis, R... OMIM:615518
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Skin rash, Leukocytosis, Increased circulating... ORPHA:37748
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Decreased proportion of CD8-positive T cells, Craniosynostosis, Increased... ORPHA:508533
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Panniculitis, Increased circulating antibody level, Anemia, Myositis, Arthr... OMIM:617591
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Increased circulating interleukin 6 concentration, Antinuclear antibody positivity, Incre... OMIM:620514
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Anemia, Hypocalcemia, Arthritis, Skin rash, Sinusitis, Recurrent pn... ORPHA:47
Papa Syndrome
Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Limitation of joint m... ORPHA:69126
Sweet Syndrome
Increased circulating interleukin 6 concentration, Panniculitis, Elevated circulating C-reactive ... ORPHA:3243
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Ab... ORPHA:85410
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Felty Syndrome
Chronic otitis media, Sinusitis, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Osteoly... ORPHA:47612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Sepsis, Panhypogammaglobulinemia, Aplasia of the thymus, Abnormally low T cell receptor excision ... OMIM:602450
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus... ORPHA:48377
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Anemia, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T cel... OMIM:304790
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent mycobacterium avium complex in... OMIM:614172
Thymoma
Aplastic anemia, Myositis, Imbalanced hemoglobin synthesis, Decreased circulating antibody level,... ORPHA:99867
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, Salmonella osteomyelitis, Lymphade... ORPHA:319552
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Elevated circulating C-reactive protein concentration, Increased proportion of CD4-... OMIM:617099
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Psoriasiform dermatitis, Neutropenia, Hypocalcemi... ORPHA:37042
Acute Lung Injury
Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr... ORPHA:178320
Autoimmune Hepatitis
Anti-smooth muscle antibody positivity, Increased circulating antibody level, Sclerosing cholangi... ORPHA:2137
Immunodeficiency 68
Sepsis, Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, ... OMIM:612260
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Reduced antigen-specific ... OMIM:616433
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Elevated cir... OMIM:301074
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased specific antibody response to vaccination, Recurrent aspiration pneumonia, Psoriasiform... ORPHA:221139
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp... ORPHA:231154
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In... OMIM:618213
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia of the thymus, T l... OMIM:208900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopen... OMIM:619313
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Recurrent infections, Elevat... OMIM:614576
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreas... OMIM:619381
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Pericarditis, Spleno... ORPHA:85414
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macr... ORPHA:227990
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... ORPHA:1830
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Decreased T cell activ... ORPHA:66628
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplasia of the thymus, Recurrent vir... OMIM:603554
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Decreased T cell activ... ORPHA:179494
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macr... ORPHA:227982
Generalized Pustular Psoriasis
Cheilitis, Sepsis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis... ORPHA:247353
Adult Acute Respiratory Distress Syndrome
Sepsis, Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating int... ORPHA:70578
Hyper-Igd Syndrome
Chronic oral candidiasis, Recurrent infections, Arthritis, Increased circulating IgA level, Skin ... OMIM:260920
Vici Syndrome
Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, Elevated cir... OMIM:242840
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Inflammatory abnormality of the skin, Elevated ... ORPHA:79099
Overlap Myositis
Abnormal circulating lipid concentration, Subluxation of the small joints of the hand, Arthritis,... ORPHA:206572
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Recurrent respiratory infections, Skin rash, Abnormal lympho... ORPHA:100026
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni... OMIM:615688
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic hemolytic anemi... OMIM:210250
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Abnormality of the wrist, Polyarticular arthritis, Malar rash, Skin rash, Limitation of j... ORPHA:85436
Bloom Syndrome
Cheilitis, Acute myeloid leukemia, Recurrent tonsillitis, Decreased proportion of CD4-positive T ... ORPHA:125
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Elevated circulating C-reactive protein concentra... OMIM:180300
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:542323
Brucellosis
Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circu... ORPHA:1304
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Hereditary Orotic Aciduria
Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Recurrent respiratory infections, Lymphope... OMIM:607944
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Splenomegaly, Impaired T cell function, Decreased serum zinc OMIM:201100
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Leukopenia, Lymphopeni... ORPHA:289390
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Pancytopenia, Arthritis, Bronchiectasis, Inflammation of th... OMIM:181000
New-Onset Refractory Status Epilepticus
Autoimmunity, Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Anti-smooth muscle antibody positivity, Normocy... ORPHA:49041
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Limitation of joint mobility, Systemic lupus erythematosus ORPHA:399180
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Abnormal circulating interleukin concentration, Increased serum bile acid con... ORPHA:69665
Myasthenia Gravis
Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hashimoto thyroidi... ORPHA:589
Interstitial Cystitis
Autoimmunity, Urinary bladder inflammation, Abnormality of tumor necrosis factor secretion, Eleva... ORPHA:37202
Hereditary Xanthinuria
Hypouricemia, Recurrent urinary tract infections, Arthropathy, Rheumatoid arthritis, Gout, Hyperx... ORPHA:3467
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections, Abnormal joint morphology, Allergic conjunc... OMIM:176690
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Abnormality of cytokine secretion, A... ORPHA:567983
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Velocardiofacial Syndrome
Hypocalcemia, Recurrent infections, Impaired T cell function OMIM:192430
Lymphoid Interstitial Pneumonia
Skin rash, Eczematoid dermatitis, Rheumatoid arthritis, Autoimmune antibody positivity, Bronchiec... ORPHA:79128
Digeorge Syndrome
Recurrent otitis media, Anemia, Intervertebral disk degeneration, Hypocalcemia, Seborrheic dermat... OMIM:188400
22Q11.2 Deletion Syndrome
Chronic otitis media, Hypocalcemia, Seborrheic dermatitis, Arthritis, Hypoplasia of the thymus, I... ORPHA:567
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma concentra... OMIM:301220
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Defective pr... OMIM:612132
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Sarcoidosis
Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Eosinophilia, Hemolytic anemia ORPHA:797

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 Dgkz

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 Dgkz.

No publications found that use IMPC mice or data for Dgkz.

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MGI Allele Allele Type Produced
Dgkztm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dgkztm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Dgkztm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Dgkztm454947(Ifitm2_intron_L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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