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Gene: Il12rb2 MGI:1270861

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

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 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
phenotypes		 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
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegaly,... OMIM:615559
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocy... OMIM:617006
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage... OMIM:613496
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, C... OMIM:619375
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Autoimmunity, Glomerulonephritis, Micro... ORPHA:567544
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia OMIM:247800
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarr... OMIM:240500
Thymoma
Myositis, Autoimmunity, Neoplasm of head and neck, Glomerulonephritis, Abnormal lymphocyte prolif... ORPHA:99867
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:444463
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, Abnormality of the ... ORPHA:289390
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, C... ORPHA:3261
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... OMIM:300635
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... OMIM:613779
Igg4-Related Pachymeningitis
Sinusitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentratio... ORPHA:449427
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Immunodeficiency 24
Decreased circulating IgG level, Lymphoproliferative disorder, Defective T cell proliferation, Re... OMIM:615897
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, B-cell lymphoma, Autoimmune thrombocytopenia, Splenomegaly, Mediast... OMIM:300853
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Immunodeficiency With Hyper-Igm, Type 1
Oral ulcer, Gingivitis, Decreased circulating IgE, Decreased circulating IgG level, Hepatomegaly,... OMIM:308230
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Increased circulating IgA level OMIM:314000
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Malabso... ORPHA:47
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ... ORPHA:91139
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Immunodeficiency 20
Reduced natural killer cell activity OMIM:615707
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Increased circulating I... OMIM:304790
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Abnormal blood ion con... ORPHA:37042
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, B-cell lymphoma, Autoimmune thrombocytopenia, Antinuclear antibody p... OMIM:618534
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Protracted diarrhea, Hepatospl... ORPHA:169160
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperhidrosis, Increased circulating IgG leve... ORPHA:99827
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Autoimmune t... ORPHA:227990
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... OMIM:616414
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Hash... ORPHA:227982
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... OMIM:619374
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Candidiasis, Familial, 1
Cutaneous anergy, Premature loss of teeth, Chronic mucocutaneous candidiasis OMIM:114580
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Cleft lip, Stage 5 c... OMIM:616730
Systemic Lupus Erythematosus
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... OMIM:152700
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduce... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Decreased circulating antibody level OMIM:613101
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Autoimmune thrombocytopenia, Impaired... OMIM:608184
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal obstruction, Autoimmunity, Ileal... OMIM:243150
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Chron... OMIM:619858
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Schimke Immuno-Osseous Dysplasia
Lymphoproliferative disorder, Autoimmunity, Abnormality of thyroid physiology, Minimal change glo... ORPHA:1830
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Pgm3-Cdg
Rheumatoid factor positive, Increased circulating IgG level, Gastroesophageal reflux, High palate... ORPHA:443811
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, N... OMIM:607594
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Dia... ORPHA:572
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Sarcoidosis
Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Hypothyroidism, Hepatomegaly, Hyperthyro... ORPHA:797
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eczema, Allergic rhinitis, ... OMIM:615816
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto... OMIM:601859
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Cleft lip, S... OMIM:618348
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Platelet antibody positive, Decrease... OMIM:603909
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... ORPHA:186
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,... OMIM:209920
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen... ORPHA:277
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Q Fever
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... ORPHA:781
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au... ORPHA:99931
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anti-thyroid p... ORPHA:49041
Immunodeficiency 56
Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic ... OMIM:615207
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Autoimmunity, Cholangitis, Portal hypertension, Hypersplenism, Hypothyroid... ORPHA:228426
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, N... OMIM:618999
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... ORPHA:829
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Spondyloenchondrodysplasia
Enchondroma, Delayed eruption of teeth, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Dec... ORPHA:1855
Griscelli Syndrome
Hepatomegaly, Pyloric stenosis, Splenomegaly, Jaundice, Hepatitis, Decreased circulating antibody... ORPHA:381
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Gingival overgrowth, Chronic constipation, Nephroti... OMIM:619428
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,... ORPHA:90291
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E... ORPHA:171
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Hematological neoplasm, Keratitis... ORPHA:1163
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Thin upper lip vermilion, Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, El... OMIM:614376
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Autoimmunity, Increased circulating IgG4 level, Cholangitis, Retroperitoneal... ORPHA:449432
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Hepatitis, Hypohidrosis, Thick vermilion border, Enamel hypoplasia ORPHA:363523
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My... ORPHA:139402
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... ORPHA:36234
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Autoimmunity, Pneumonia, Ma... ORPHA:83471
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Villous atrophy, Functional abnormality of the bladder, In... ORPHA:391487
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Autoimmunity, Portal hypertension, Hypersplenism, Splenomegaly, Chronic diarrhea, H... OMIM:613385
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Diarrhea, Splenomegaly... ORPHA:549
Graft Versus Host Disease
Fasciitis, Myositis, Oral ulcer, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea... ORPHA:39812
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Elevated circulating C-reactive protein concentration, Oral ulcer, Colitis, Hypo... OMIM:619381
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Nausea, Fulminant hepatitis, Jaundice, Gingival blee... OMIM:618549
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, B-cell lym... OMIM:613011
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Agammaglobulinemia, X-Linked
Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious encephalit... OMIM:300755
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperiton... ORPHA:64744
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Celiac disease, A... OMIM:615952
Brucellosis
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati... OMIM:613179
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... ORPHA:48377
Neurofibroma
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... ORPHA:252183
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Mccune-Albright Syndrome
Gastroesophageal reflux, Hyperthyroidism, Hepatitis, Renal phosphate wasting, Ovarian cyst, Incre... ORPHA:562
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me... ORPHA:319218
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ... ORPHA:91138
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... OMIM:613404
Lichen Planopilaris
Hepatitis, Abnormal intestine morphology, Neoplasm of the oral cavity ORPHA:525
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Decreased response to growth hormone stimulation t... OMIM:307200
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:614921
Cheilitis Glandularis
Thick lower lip vermilion, Neoplasm, Abnormal salivary gland morphology, Squamous cell carcinoma ORPHA:1221
Myasthenia Gravis
Myositis, Hyperthyroidism, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific ... ORPHA:589
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypophosphatemia, Hypopho... OMIM:618913
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... OMIM:208085
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Chronic hepatiti... OMIM:614602
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid lupus rash, Anti-L... ORPHA:536
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thin upper lip vermilion, Hepatomegaly, Increased circulating thyroglobulin level, Portal hyperte... OMIM:610199
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Hypoplasia of the thymu... OMIM:617241
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Xerostomia, Hypohidrosis, Keratoconjunctivitis sicca, Constipation, Ca... ORPHA:43393
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Episo... OMIM:238970
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypercalcemia, Autoimmuni... ORPHA:199299
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis ORPHA:848
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Gastroesophageal refl... ORPHA:79408
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:614576
Bazex Syndrome
Lip hyperpigmentation, Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnormalit... ORPHA:2552
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Hyperhidrosis, Acute tubulointerstitia... ORPHA:340
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Chroni... OMIM:203800
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Adrenocorticotropin ... ORPHA:199296
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphol... ORPHA:251004
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He... OMIM:194380
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:617765
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Infectious encephalitis, Nep... ORPHA:73263
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Hepatitis, Uveitis, Melena, Incr... ORPHA:319251
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level, Lymphadenopathy, Follicular ... ORPHA:482
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Perianal ab... ORPHA:2968
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... OMIM:240300
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Dysuria,... OMIM:618131
Aicardi-Goutieres Syndrome 7
Hepatic steatosis, Atrophic gastritis, Hepatomegaly, Skin rash, Chilblains, Pneumonia, Generalize... OMIM:615846
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly OMIM:607624
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Autoimmune antibody positivity, Breast carcinoma, Ne... ORPHA:1183
Adrenocortical Carcinoma
Increased urinary cortisol level, Adrenocortical carcinoma, Adrenocorticotropic hormone deficienc... ORPHA:1501
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepatic failure,... ORPHA:292
Roifman Syndrome
Thin upper lip vermilion, Eczema, Recurrent pneumonia, Decreased circulating antibody level, Down... ORPHA:353298
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Stea... ORPHA:440713
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Reticular Dysgenesis
Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function OMIM:267500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity... ORPHA:331206
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Insulin-Resistance Syndrome Type B
Osteoarthritis, Increased circulating IgG level, Hypoalbuminemia, Abnormal salivary gland morphol... ORPHA:2298
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Salivary gland neoplasm, Abnormality of the submandibular glands, Basal ... ORPHA:79493
Dominant Beta-Thalassemia
Hypoparathyroidism, Abnormality of the dentition, Hypersplenism, Splenomegaly, Diarrhea, Jaundice... ORPHA:231226
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Decreased circulating antibody level ORPHA:540
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... ORPHA:2035
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Skin rash, Abnormal dental enamel morphology, Cheilitis, Hepa... ORPHA:1334
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Intestinal malrotation, Hepat... ORPHA:436252
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Cocaine Intoxication
Proteinuria, Elevated circulating creatine kinase concentration, Glomerulonephritis, Intestinal p... ORPHA:90068
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Sialadenitis, Abno... ORPHA:449563
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna... ORPHA:728
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Generalized lymphadenopathy,... ORPHA:3260
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... ORPHA:542323
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft upper lip, Cleft palate, Hematuria, N... OMIM:161200
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulone... OMIM:619525
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Nephrolithiasis, Desmoid t... ORPHA:137605
Asbestos Intoxication
Mediastinal lymphadenopathy, Malignant mesothelioma, Lung adenocarcinoma ORPHA:2302
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Ab... OMIM:600802
Acute Disseminated Encephalomyelitis
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Herpes simplex enc... ORPHA:83597
Kawasaki Disease
Pericarditis, Skin rash, Proteinuria, Myocarditis, Diarrhea, Jaundice, Cervical lymphadenopathy, ... ORPHA:2331
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Hepatitis, Hyperammonemia, Hyperorni... ORPHA:415
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eczema, Increased circulating IgA leve... OMIM:301000
Immunodeficiency 96
Multicystic kidney dysplasia, Eczema, Decreased circulating total IgM, Defective T cell prolifera... OMIM:619774
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity OMIM:603553
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Chronic diarrhea, Recurrent pneum... ORPHA:35078
Mucopolysaccharidosis Type 7
Splenomegaly, Mucopolysacchariduria, Hepatitis ORPHA:584
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP c... ORPHA:85443
Benign Schwannoma
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... ORPHA:252164
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Reduced natural killer cell activity OMIM:608233
Gaucher Disease
Hepatomegaly, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein concentration, ... ORPHA:355
Dermatomyositis
Pericarditis, Autoimmunity, Gastrointestinal stroma tumor, Myocarditis, Lymphoma, Breast carcinom... ORPHA:221
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly,... OMIM:242700
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Occipital Horn Syndrome
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, High, narrow palate, Jaundice, ... ORPHA:198
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Diarrhea, Jaundice, Hepatitis, Uve... ORPHA:509
Sotos Syndrome
Ureteral duplication, Astrocytoma, No permanent dentition, Neoplasm, Gastroesophageal reflux, Chr... ORPHA:821
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Hypogeusia, Low alkaline phosphat... OMIM:201100
Cirrhosis, Familial
Fulminant hepatitis, Jaundice, Esophageal varix, Micronodular cirrhosis, Biliary cirrhosis, Incre... OMIM:215600
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Diarrhea, Jaundice, Hepati... ORPHA:90062
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Hereditary Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Abnor... ORPHA:30
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Elevated cir... ORPHA:50918
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:604292
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Abnormality of T cell physiology, Psoriasiform dermatitis, R... ORPHA:2237
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated ... ORPHA:319213
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Iridocyclitis, Splen... OMIM:181000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:129900
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon... ORPHA:64
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Vici Syndrome
Decreased circulating IgG level, Everted upper lip vermilion, Median cleft lip, Elevated circulat... OMIM:242840
22Q11.2 Deletion Syndrome
Impaired T cell function, Gastroesophageal reflux, Hypocalcemia, Short philtrum, Hypoplasia of th... ORPHA:567
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... ORPHA:90340
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased T cell activat... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased T cell activat... ORPHA:179494
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Gastroesophageal reflux, H... OMIM:188400
Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Hematuria, Oroticaciduria, Reduced orotidine ... OMIM:258900
Velocardiofacial Syndrome
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Velopharyngeal insufficiency, Submu... OMIM:192430
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Hypospadias, Allergic rhinitis, Impaired T cell function, Allergic conjuncti... OMIM:176690
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Renal agenesis, Delayed eruption of primary teeth, Aplasia of the paroti... OMIM:149730
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343

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 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
IL-12 regulates type 3 immunity through interfollicular keratinocytes in psoriasiform inflammation. Science immunology (October 2021) Il12rb2tm1c(KOMP)Wtsi Il12rb2tm1a(KOMP)Wtsi Il12rb2tm1b(KOMP)Wtsi 34678045
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Il12rb2tm1.1(KOMP)Vlcg PMC5503261

Order Mouse and ES Cells

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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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