Not currently registered for phenotyping at IMPC

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

Gene Summary

interleukin 12 receptor, beta 2
IL-12RB2,  Ifnm,  A930027I18Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Il12rb2 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 Il12rb2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Elevated circulating C-reactive ... OMIM:615559
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, ... OMIM:617006
Autoimmune Hepatitis
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Gastrointestinal he... ORPHA:2137
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... OMIM:613496
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia, Autoimmune hemolytic anemia OMIM:247800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Hodgkin lymphoma, Celiac disease, Lymphadenopathy, Systemic lupus erythematosus, Sp... OMIM:619375
Whim Syndrome
Cutaneous melanoma, Sinusitis, Abnormality of the small intestine, Cervix cancer, Pneumonia, Bron... ORPHA:51636
Prostate neoplasm, Autoimmunity, Neoplasm of the lung, Abnormal lymphocyte proliferation, Neoplas... ORPHA:99867
Abnormality of the spleen, Splenic abscess, Pneumonia, Prostatitis, Abnormal parotid gland morpho... ORPHA:31202
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... ORPHA:567544
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Immunodeficiency, Common Variable, 2
Conjunctivitis, Autoimmunity, Hepatomegaly, Impaired T cell function, Decreased circulating IgA l... OMIM:240500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Lymphadenopathy, Systemic lupus erythematosus, Recurrent otitis media, Hepatitis, S... ORPHA:444463
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Hematuria, Elevated circulating... ORPHA:329918
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis OMIM:613652
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Decreased circulating antibody level, Parotitis, O... ORPHA:289390
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Autoimmunity, Thyroid carcinoma, Neutropenia in presence of anti-neutropil ... ORPHA:3261
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Renal insufficiency, Nephrotic syndrome, Membranoproliferative glom... OMIM:613779
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating... OMIM:300635
Igg4-Related Pachymeningitis
Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, P... ORPHA:449427
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Salivary Duct Calculi
Abnormality of the mouth, Parotitis OMIM:181010
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Decreased circulating IgA level, Reduced natural killer cell activity, Decrea... OMIM:300400
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Macrophage Activation Syndrome
Autoimmunity, Hepatomegaly, Increased circulating interleukin 6, Hypoalbuminemia, Lymphadenopathy... ORPHA:158061
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Hematuria, Glomerulonephritis OMIM:314000
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Arthri... ORPHA:31205
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Stomatitis, Decreased circulating IgA level, Sclerosing cholangitis, Impaired memor... OMIM:308230
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Hodgkin lymphoma, Decreased CD69 upregulation upon TCR activation, L... OMIM:300853
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Simple Cryoglobulinemia
Rheumatoid factor positive, Mesangial hypercellularity, Microscopic hematuria, Gastrointestinal h... ORPHA:91139
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Increased circulating interleukin 8, Splenomegaly, Parotitis, Elevated circulati... OMIM:256040
X-Linked Agammaglobulinemia
Sinusitis, Autoimmunity, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otiti... ORPHA:47
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Rheumatoid factor positive, Chronic kidney disease... ORPHA:449395
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Erythroderma, Villous atrophy, Lymp... OMIM:304790
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, High palate, Bronchiectasis, Chronic otitis media, Verrucae, Hepat... ORPHA:33110
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Abnormal intestine morphology,... ORPHA:37042
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Defective T cell proliferation, Mediastinal lymphade... OMIM:618534
Immunodeficiency 20
Reduced natural killer cell activity OMIM:615707
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Reduced natural killer cell activity, Decreased circulating IgG ... OMIM:619281
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Lymphadenopathy, Melena, Splenomegaly, Parotitis, Acute pancr... ORPHA:99827
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Protracted diarrhea, Decreased circulat... ORPHA:169160
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... OMIM:607665
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Elevated circulat... ORPHA:562639
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Mesangial hypercellularity, Crescentic glomerulonephritis, Elevated circulating C-reac... OMIM:616414
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Autoimmunity, Anterior pituitary dysgenesis, Tubulointerstitial nephr... ORPHA:227990
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Reduced natural killer cell activity, Impaired neu... OMIM:619374
Autoimmune Polyendocrinopathy Type 3
Autoimmunity, Tubulointerstitial nephritis, Decreased circulating antibody level, Hepatitis, Grav... ORPHA:227982
Candidiasis, Familial, 1
Cutaneous anergy, Premature loss of teeth, Chronic mucocutaneous candidiasis OMIM:114580
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Polycystic ovaries, Memb... OMIM:608709
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Cleft palate, Smooth philtrum, Minimal... OMIM:616730
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Systemic lupus erythematosus, Nephritis, Arthritis, Malar rash, An... OMIM:152700
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Autoimmunity, Hypoalbuminemia, Hepatic fibrosis, Hepat... ORPHA:186
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Abnormal natural killer cell physiology OMIM:613101
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Decreased circulating IgA level, Neutropenia i... OMIM:607594
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell activity, Bur... OMIM:308240
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Marfanoid Habitus With Microcephaly And Glomerulonephritis
High, narrow palate, Glomerulonephritis, High palate, Renal insufficiency OMIM:248760
Immunodeficiency With Hyper-Igm, Type 4
Myelodysplasia, Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Impaired Ig class swi... OMIM:608184
Porphyria Cutanea Tarda
Porphyrinuria, Increased urinary porphobilinogen, Increased circulating ferritin concentration, D... ORPHA:101330
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Peritonitis, Elevated hepatic iron conc... ORPHA:139507
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Hemolytic-uremic syndrome, Intermittent diarrh... OMIM:619644
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating ... ORPHA:183675
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... OMIM:607271
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Focal segmental glomerulosclerosis, Abnormal intestine morphology, Hypodontia, Mini... ORPHA:1830
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Autoimmunity, Eczema, Lactose intolerance, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:443811
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Sinusitis, Inflammatory abnormality of... ORPHA:277
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Autoimmunity, Lack of T cell function, Neutropenia in presence of anti-neutropil antib... ORPHA:572
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:606843
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis, High palate ORPHA:2172
Tumor Predisposition Syndrome
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma OMIM:614327
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Platelet antibody positive, Follicular hyperplasia, Neutropenia in presence of anti... OMIM:601859
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Villous atrophy, Biliary tract abnormal... OMIM:209920
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Eczema, Focal segmental glomerulosclerosis, Cleft palate, Minimal change g... OMIM:618348
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Biliary tract obstruction... ORPHA:400
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Halothane Hepatitis
Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Rheumatoid factor positive... OMIM:603909
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Q Fever
Myocarditis, Lymphadenopathy, Hepatitis, Rheumatoid factor positive, Splenomegaly, Hepatosplenome... ORPHA:781
Tubulointerstitial nephritis, Lymphadenopathy, Parotitis, Uveitis, Enlargement of parotid gland, ... ORPHA:797
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Immunodeficiency 23
Eczema, Allergic rhinitis, High palate, Hodgkin lymphoma, Bronchiectasis, Rheumatoid factor posit... OMIM:615816
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Elevated circulati... OMIM:613812
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Antineutrophil antibody positivity, Rheumatoid factor positive, Autoimmune antibody... ORPHA:99931
Galloway-Mowat Syndrome 2, X-Linked
High palate, Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5... OMIM:301006
Primary Sclerosing Cholangitis
Autoimmunity, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatospl... ORPHA:171
Immunodeficiency 56
Cholangitis, Bronchiectasis, Recurrent otitis media, Chronic diarrhea, Cirrhosis, Panhypogammaglo... OMIM:615207
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... ORPHA:49041
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Anti-glutamic acid decarboxylase antib... ORPHA:228426
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Elevated circulating C-reactive pro... ORPHA:48435
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophili... OMIM:618999
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... OMIM:608106
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, Hepatitis, Bon... ORPHA:829
Autoimmunity, Pneumonia, Hematuria, Systemic lupus erythematosus, Hepatitis, Arthritis, Delayed e... ORPHA:1855
Systemic Sclerosis
Myocarditis, Antinuclear antibody positivity, Gastroparesis, Abnormal stomach morphology, Intesti... ORPHA:90291
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Lymphadenopathy, Abnormal circulating lipid concentration, Decrea... ORPHA:381
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Hepatitis, Enamel hypoplasia, Thick vermilion border, Hypohidrosis ORPHA:363523
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Abnormal esophagus morp... ORPHA:1163
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Elevated circulating creati... OMIM:614376
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Infectious encephalitis... ORPHA:36234
Lung Cancer
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma OMIM:211980
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Autoimmunity, Cholangitis, Prostatitis, Lymphadenopathy, Xero... ORPHA:449432
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Hepatomegaly, Lymphoproliferative disorder, Leukemia, Decreased lymphocyte apoptosi... OMIM:614470
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Primary adrenal insufficiency, Cirrhosis,... OMIM:269200
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies, Hepa... ORPHA:391487
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Lymphadenopathy, ... ORPHA:549
Thymic Aplasia
Sinusitis, Autoimmunity, Eczematoid dermatitis, Hypocalcemic tetany, Pneumonia, Lymphadenopathy, ... ORPHA:83471
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Erythroderma, Tubulointerstitial nephritis, Infectious encephalitis, Nephrotic syndr... ORPHA:139402
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Autoimmunity, Hepatomegaly, Short philtrum, Decreased circulating IgA level, Hepatitis, Splenomeg... OMIM:613385
Wilson Disease
Hyperphosphaturia, Hypoparathyroidism, Renal tubular dysfunction, Dysphagia, Aminoaciduria, Hepat... OMIM:277900
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Multiple myeloma, Systemic lupus erythematosus, Increased circulating anti... ORPHA:48377
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Gingival bleeding, Nausea, Fulminant hepatitis, Hepatic failure, Elevated hepatic t... OMIM:618549
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, ... ORPHA:1304
Spinal meningioma, Plexiform neurofibroma, Neoplasm of the breast, Neoplasia of the pleura, Spina... ORPHA:252183
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Abnormal intestine morphology, Hodgkin lymphoma, Interstitial pneumonitis, ... OMIM:615952
Lymphoproliferative Syndrome 1
Autoimmunity, Hepatomegaly, Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Stom... OMIM:613011
Mccune-Albright Syndrome
Renal tubular dysfunction, Goiter, Increased circulating cortisol level, Hepatitis, Hypophosphate... ORPHA:562
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Smooth philtrum, Nephrotic syndrome, Long philtrum, Glomerular sclerosis, Gingival o... OMIM:619428
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... OMIM:104200
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Hypouricemia, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaire... OMIM:613179
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Intestinal ... OMIM:243150
Immunodeficiency 36
Chronic lymphatic leukemia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, S... OMIM:616005
Graft Versus Host Disease
Stomatitis, Lymphadenopathy, Fasciitis, Hepatosplenomegaly, Maculopapular exanthema, Elevated cir... ORPHA:39812
Wilson Disease
Hepatomegaly, Hepatitis, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, ... ORPHA:905
Ebola Hemorrhagic Fever
Dysphagia, Vomiting, Nausea, Hepatitis, Melena, Increased circulating antibody level, Gastrointes... ORPHA:319218
Myasthenia Gravis
Dysphagia, Anti-acetylcholine receptor antibody positivity, Myositis, Systemic lupus erythematosu... ORPHA:589
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Colitis, Hepatitis, Decreased serum iron, Cirrhosis, Diarrhea OMIM:614602
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, Sple... ORPHA:91138
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Cholestatic liver disease, Conjug... OMIM:613404
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hypernatremia, Cholesteatoma, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis... OMIM:619381
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... OMIM:307200
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:611182
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm ORPHA:1221
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Lichen Planopilaris
Neoplasm of the oral cavity, Hepatitis, Abnormal intestine morphology ORPHA:525
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney diseas... OMIM:618913
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Cleft palate, Pierre-Robin sequence, Vomiting, Increased hepatic gl... OMIM:614921
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgA level, Verrucae, Decreased circulating IgG level, Chronic... ORPHA:275
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Lambert-Eaton Myasthenic Syndrome
Keratoconjunctivitis sicca, Calcium channel antibody positivity, Xerostomia, Hypohidrosis, Small ... ORPHA:43393
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Cholestatic liver disease, Conjug... OMIM:208085
Late-Onset Isolated Acth Deficiency
Autoimmunity, Hypoparathyroidism, Hyponatremia, Hypercalcemia, Constipation, Celiac disease, Hepa... ORPHA:199299
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... ORPHA:2442
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Inflammation of the large intestine, Esophageal varix, Impaired T cell function, El... OMIM:614576
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed ... OMIM:617241
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, IgA deposition in the glomerulus, Decreased plasma total carnitine, Anal fissure, ... ORPHA:79408
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Avian Influenza
Hypoalbuminemia, Infectious encephalitis, Elevated circulating C-reactive protein concentration, ... ORPHA:454836
Bazex Syndrome
Lip hyperpigmentation, Liposarcoma, Neoplasm, Lung adenocarcinoma ORPHA:166113
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM OMIM:242850
Leukocyte Adhesion Deficiency
Sinusitis, Hemolytic-uremic syndrome, Impaired platelet aggregation, Conjunctivitis, Bone marrow ... ORPHA:2968
Myocarditis, Cholangitis, Sinusitis, Hepatitis, Abnormality of the urinary system physiology, Inf... ORPHA:2552
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Abnormal dental enamel morphology, Anhidrosis, Increased bl... ORPHA:251004
Muir-Torre Syndrome
Neoplasm of the skin, Malignant genitourinary tract tumor, Neoplasm of the stomach, Endometrial c... ORPHA:587
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Autoimmunity, Abnormal salivary gland morphology, Tubulointerstitial ... ORPHA:79078
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Hepatitis, Cholelithiasis, Splenomegaly, Increased circulating ferr... OMIM:194380
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... OMIM:617765
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased HDL cholesterol concentration, Tubulointerstiti... OMIM:203800
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Hepatic fibrosis, Hep... ORPHA:231226
Congenital Isolated Acth Deficiency
Hyponatremia, Hepatitis, Adrenocorticotropin deficient adrenal insufficiency, Prolonged neonatal ... ORPHA:199296
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Hyperammonemia, Decreased liver function, Hyperornithinemia, Episo... OMIM:238970
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Abnormal salivary gland morphology, Follicular ... ORPHA:482
Rift Valley Fever
Infectious encephalitis, Gingival bleeding, Excessive salivation, Hematuria, Hepatitis, Increased... ORPHA:319251
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Elevated circulating creatine kinase concentration, Cholelithiasis, Cholest... ORPHA:79095
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... ORPHA:73263
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Congenital hypothyroidism, Pancreatic hypoplasia, Hepatic fibrosis, Splenic cyst, P... OMIM:610199
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Dysphagia, Goiter, Retroperitoneal fib... ORPHA:64744
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Adrenal insufficiency, Decreased circulating aldosterone level, Hypopar... OMIM:240300
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly OMIM:607624
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Dysphagia, Recurr... OMIM:618131
Congenital Enterovirus Infection
Myocarditis, Hypoalbuminemia, Infectious encephalitis, Hepatitis, Hyperammonemia, Skin rash, Chol... ORPHA:292
Opsoclonus-Myoclonus Syndrome
Neuroblastoma, Neoplasm of the lung, Neoplasm, Breast carcinoma, Autoimmune antibody positivity, ... ORPHA:1183
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Adrenocorticotropic hormone deficienc... ORPHA:1501
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Thick vermilion border, Membranoproliferative glomeruloneph... OMIM:137940
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Cutaneous anergy, Splenomegaly OMIM:183350
Reticular Dysgenesis
Hypoplasia of the thymus, Lack of T cell function, Impaired T cell function OMIM:267500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Hepatomegaly, Decreased circulating IgA level, Lymphadenitis, Decreased circulating... ORPHA:331206
Insulin-Resistance Syndrome Type B
Autoimmunity, Enlarged ovaries, Hypotriglyceridemia, Enlarged polycystic ovaries, Abnormal saliva... ORPHA:2298
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp... ORPHA:567546
Isolated Sedoheptulokinase Deficiency
Hepatitis, Cholestatic liver disease, Abnormal renal tubule morphology, Steatorrhea, Cholestasis,... ORPHA:440713
Lymphatic Filariasis
Vaginal hydrocele, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Knee osteoarthritis, Epidi... ORPHA:2035
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Hypogeusia, Low alkaline phosphatase, Diarr... OMIM:201100
Chronic Mucocutaneous Candidiasis
Abnormal lip morphology, Cheilitis, Hematuria, Hepatitis, Abnormal dental enamel morphology, Abno... ORPHA:1334
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Decreased circulating antibody level ORPHA:540
Cancer-Associated Retinopathy
Cutaneous melanoma, Malignant genitourinary tract tumor, Neoplasm of the breast, Hodgkin lymphoma... ORPHA:71505
Brooke-Spiegler Syndrome
Multiple cutaneous malignancies, Skin appendage neoplasm, Abnormality of the sublingual glands, B... ORPHA:79493
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmunity, Psoriasiform dermatitis, Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thy... ORPHA:436252
Cocaine Intoxication
Bloody diarrhea, Tubulointerstitial nephritis, Vomiting, Nausea, Elevated circulating creatine ki... ORPHA:90068
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, R... ORPHA:449563
Legius Syndrome
Non-small cell lung carcinoma, Ovarian neoplasm, Vestibular Schwannoma, Male urethral meatus sten... ORPHA:137605
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Hepatomegaly, Increased hepatic echogenicity, Vomiting, Elevated hepatic tr... OMIM:619525
Relapsing Polychondritis
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hematuria, Hepatitis, A... ORPHA:728
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Dysphagia, Myelodysplasia, Erythroderm... ORPHA:3260
Nail-Patella Syndrome
Cleft palate, Nephrotic syndrome, Cleft upper lip, Hematuria, Glomerulonephritis, Proteinuria, Re... OMIM:161200
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Decreased urine output,... ORPHA:542323
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in respon... OMIM:600802
Benign Schwannoma
Vestibular Schwannoma, Abnormal parotid gland morphology, Peripheral Schwannoma, Abnormal esophag... ORPHA:252164
Asbestos Intoxication
Mediastinal lymphadenopathy, Malignant mesothelioma, Lung adenocarcinoma ORPHA:2302
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Pituitary adenoma, Carcinoid tumor, Primary hyperparathyro... OMIM:610755
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Pustule, Lack of T cell function, Rectovaginal fistula, Decreased circulating IgG level, Partial ... ORPHA:35078
Acute Disseminated Encephalomyelitis
Herpes simplex encephalitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Vomiti... ORPHA:83597
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Oroticaciduria, Hepatitis, Hyperammonemia, Decreased liver function, Abnormal circu... ORPHA:415
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Hepatitis, Splenomegaly ORPHA:584
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation OMIM:608233
Gaucher Disease
Hepatomegaly, Dysphagia, Elevated circulating C-reactive protein concentration, Gingival bleeding... ORPHA:355
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymus, Reduced delayed hypersens... OMIM:242700
Kawasaki Disease
Myocarditis, Pericarditis, Sterile pyuria, Cheilitis, Hepatitis, Arthritis, Jaundice, Skin rash, ... ORPHA:2331
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity OMIM:603553
Al Amyloidosis
Abnormal salivary gland morphology, Hepatomegaly, Dysphagia, Nephrotic syndrome, Xerostomia, Macr... ORPHA:85443
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Gingival bleeding, Pneumonia, Oral bleedi... OMIM:600903
Myocarditis, Autoimmunity, Gastrointestinal stroma tumor, Pericarditis, Lung adenocarcinoma, Neop... ORPHA:221
Goodpasture Syndrome
Macroscopic hematuria, Cytoplasmic antineutrophil antibody positivity, Anti-glomerular basement m... OMIM:233450
Hepatomegaly, Hyperproteinemia, Pericarditis, Elevated serum transaminases during infections, Lym... ORPHA:509
Occipital Horn Syndrome
High, narrow palate, Dysphagia, Long philtrum, Hepatitis, Esophagitis, Gastroparesis, Exostoses, ... ORPHA:198
Sotos Syndrome
Hypospadias, Acute lymphoblastic leukemia, Astrocytoma, Cholesteatoma, Chronic otitis media, Pate... ORPHA:821
Acute Liver Failure
Adrenal insufficiency, Hepatocellular necrosis, Vomiting, Nausea, Hepatitis, Hepatic necrosis, Hy... ORPHA:90062
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Neoplasm of the thymus, Small intestine ... ORPHA:99889
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Cleft palate, Hypoplastic nipples, Renal dysplasia, Megacystis, Micropenis, Renal ... OMIM:604292
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Gingival bleeding, Oral bleeding, Increased circulat... OMIM:301000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Hydronephrosis, Hypoparathyroidism, Cleft palate, Hypocalcemic seizures,... ORPHA:2237
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Pustule, Elevated hepatic transaminase, Lymphadenopathy, Abnormality o... ORPHA:50918
Progeroid Short Stature With Pigmented Nevi
Hypospadias, Allergic conjunctivitis, Hypodontia, Allergic rhinitis, Irregular dentition, Vomitin... OMIM:176690
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Impaired T cell function, Patent ductus arteriosus, Sp... ORPHA:30
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Inflammation of the large intestine, Mediastina... OMIM:181000
Alström Syndrome
Esophageal varix, Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulati... ORPHA:64
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Cleft palate, Hypoplastic nipples, Oligodontia, Renal dysplasia, Micropenis, Renal... OMIM:129900
Lujo Hemorrhagic Fever
Myocarditis, Dysphagia, Elevated circulating C-reactive protein concentration, Vomiting, Nausea, ... ORPHA:319213
Vici Syndrome
Cleft palate, Cleft upper lip, Cutaneous anergy, Decreased circulating IgG level, Chronic mucocut... OMIM:242840
22Q11.2 Deletion Syndrome
Hypospadias, Autoimmunity, Carious teeth, Cleft palate, Truncus arteriosus, Chronic otitis media,... ORPHA:567
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Defective T cell proliferation, Increased circulating IgG level, Eosinophilic in... OMIM:618213
Blau Syndrome
Abnormal salivary gland morphology, Abnormal inflammatory response, Pericarditis, Synovitis, Post... ORPHA:90340
Obesity Due To Congenital Leptin Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased T cell activation, Hypertriglyceride... ORPHA:66628
Digeorge Syndrome
High, narrow palate, Hydronephrosis, Cleft palate, Truncus arteriosus, High palate, Short philtru... OMIM:188400
Obesity Due To Leptin Receptor Gene Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased T cell activation, Hypertriglyceride... ORPHA:179494
Orotic Aciduria
Oroticaciduria, Impaired T cell function, Hematuria, Orotic acid crystalluria, Reduced orotidine ... OMIM:258900
Velocardiofacial Syndrome
Hypoparathyroidism, Cleft palate, Pierre-Robin sequence, Impaired T cell function, Velopharyngeal... OMIM:192430
Lacrimoauriculodentodigital Syndrome
Carious teeth, Conical incisor, Hypodontia, Renal agenesis, Lacrimal gland aplasia, Aplasia of th... OMIM:149730
Treacher Collins Syndrome 1
Cleft palate, Wide mouth, Cleft soft palate, Abnormal parotid gland morphology, Narrow mouth, Cry... OMIM:154500
Darier-White Disease
Enlargement of parotid gland OMIM:124200


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 Il12rb2

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 Il12rb2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Il12rb2tm1.1(KOMP)Vlcg PMC5503261

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MGI Allele Allele Type Produced
Il12rb2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il12rb2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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