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Gene: Ifngr2 MGI:107654

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
interferon gamma receptor 2
Synonyms:
Ifgr2,  Ifgt

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 Ifngr2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ifngr2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889

The table below shows human diseases predicted to be associated to Ifngr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... OMIM:614372
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Acne Inversa, Familial, 3
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... OMIM:616941
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... OMIM:607594
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia, Mono... OMIM:300299
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria... ORPHA:169079
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... ORPHA:276
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i... ORPHA:2688
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Recurrent viral infections, Recurrent upper respiratory tract infections, Ch... OMIM:614868
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infections, Lymphopenia, Hepatos... ORPHA:331206
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent mycobacterial inf... ORPHA:98813
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Splenomegaly,... OMIM:620632
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte proliferation in re... ORPHA:83471
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Increased circulating IgE ... OMIM:243700
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurr... OMIM:615978
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:911
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... OMIM:614172
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... OMIM:616452
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:601859
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Recurrent lower respirato... OMIM:308230
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Recurrent enteroviral infections, Panhypogammaglobulinemia, Rec... OMIM:307200
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent... OMIM:615468
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating... ORPHA:411593
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis OMIM:300455
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aph... ORPHA:486
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased... OMIM:606367
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233710
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... OMIM:618048
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233690
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ... ORPHA:443811
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Autoimmunity OMIM:617006
Omenn Syndrome
Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia o... OMIM:603554
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Recurrent viral infections, Increased circulating IgE level... OMIM:102700
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... OMIM:618534
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Recurrent b... OMIM:612840
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections,... OMIM:613179
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Recurrent gram-neg... OMIM:116920
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ... ORPHA:169090
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, ... OMIM:610984
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr... OMIM:617475
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Lack ... ORPHA:277
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:603909
Immunodeficiency 23
Allergic rhinitis, Recurrent staphylococcal infections, Eczematoid dermatitis, Chronic mucocutane... OMIM:615816
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Granuloma, Lymphadeniti... OMIM:306400
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Recurrent viral infections, Eczematoid dermatiti... OMIM:620565
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased T cell activation, Decreased CD69 upregulation upon TCR ac... OMIM:300853
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:221139
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmune thrombocytopenia, Decreased lymphocyte apoptosis, Autoimmunity, Increased circulating ... OMIM:614470
Whim Syndrome
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Seps... ORPHA:51636
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections... OMIM:603585
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Autoimmunity, Cytoplasmic anti... ORPHA:449400
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections, Acute ... ORPHA:60033
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Neutropenia, Recurrent lower respiratory tract infections, Otiti... OMIM:612541
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Splenomegaly, Recurrent bacterial infections, Arthritis, Meningitis, Inf... ORPHA:36412
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating... ORPHA:48435
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent strepto... ORPHA:167
Mirage Syndrome
Sepsis, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurr... OMIM:617053
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent s... OMIM:214500
Shwachman-Diamond Syndrome
Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ... ORPHA:811
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Pemphigus Erythematosus
Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Leukocytosis, Splenome... OMIM:615895
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Recurrent viral infections, Sepsis, Lymphopenia, Decreased CD4:CD8 ratio, Aut... OMIM:619573
Kenny-Caffey Syndrome, Type 1
Anemia, Recurrent bacterial infections OMIM:244460
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Chronic sinusitis, Chron... ORPHA:244
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... OMIM:248500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons... OMIM:600802
Chromomycosis
Recurrent bacterial infections, Keratoconjunctivitis sicca, Keratitis ORPHA:182
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Neutropenia, Recurrent bac... OMIM:232220
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Cutaneous abscess, Eczematoid ... OMIM:147060
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Ulcerative colitis, Gout, Recurrent bacterial... ORPHA:79259
Cystic Fibrosis
Recurrent respiratory infections, Recurrent Burkholderia cepacia infections, Recurrent Aspergillu... ORPHA:586
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Increased circulating antibody level, Recurrent... ORPHA:470
Orotic Aciduria
Impaired T cell function OMIM:258900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Recurrent bacterial infections ORPHA:99104
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Episcleritis, Scleritis, Recu... ORPHA:2273
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Recurrent bacterial infections ORPHA:99103
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Hereditary Sensory And Autonomic Neuropathy Type 4
Septic arthritis, Fasciitis, Osteomyelitis, Abscess, Tooth abscess, Recurrent Staphylococcus aure... ORPHA:642
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000

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 Ifngr2

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 Ifngr2.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
N-glycosylation Regulates Intrinsic IFN-γ Resistance in Colorectal Cancer: Implications for Immunotherapy. Gastroenterology (November 2022) Ifngr2tm1c(KOMP)Wtsi Ifngr2tm1a(KOMP)Wtsi PMC10009756
IFN-γ mediates Paneth cell death via suppression of mTOR. eLife (October 2021) Ifngr2tm1c(KOMP)Wtsi PMC8570691
Distinct mechanisms govern populations of myeloid-derived suppressor cells in chronic viral infection and cancer. The Journal of clinical investigation (August 2021) Ifngr2tm1c(KOMP)Wtsi Ifngr2tm1a(KOMP)Wtsi PMC8363287

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MGI Allele Allele Type Produced
Ifngr2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ifngr2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ifngr2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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