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Gene: Il12b MGI:96540

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Gene Summary

Name:
interleukin 12b
Synonyms:
IL-12 p40,  IL-23 subunit p40,  Il-12p40,  Il-12b

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Il12bem1(IMPC)H HOM Early adult 3.17×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Il12b 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 Il12b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 29
BCGitis OMIM:614890
Takayasu Arteritis
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis ORPHA:3287

The table below shows human diseases predicted to be associated to Il12b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 29
BCGitis OMIM:614890
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... OMIM:615897
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity OMIM:614493
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recur... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 33
Delayed eruption of teeth, Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Dec... OMIM:300636
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Lymphoma, Bronchiectasis, Recurrent bacterial infe... OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent upper respiratory t... OMIM:613101
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... OMIM:619281
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Dysgammaglobulinemia, Elevated circulating C-reactive protein c... OMIM:308240
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Lymphoproliferative disorder, Persistent CMV viremia, B-cell ly... OMIM:300853
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity OMIM:608898
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Lymphoproliferative disorder, Elevated circulating C-reactive... OMIM:615559
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Impaired Ig class switch recombination, Myelodysplasia, Recurrent upper respirator... OMIM:608184
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 81
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Recurrent... OMIM:619374
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... OMIM:607594
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections OMIM:616941
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in... ORPHA:572
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infecti... ORPHA:98813
Autoinflammation With Infantile Enterocolitis
Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural killer cell act... OMIM:616050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Lymphoproliferative ... ORPHA:276
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Hypocalcemic tetany, Chronic otitis media, Oppor... ORPHA:83471
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent Staphylococcus aureus infections, Recurrent abscess formatio... OMIM:613860
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... OMIM:613496
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Non-Hodgkin lymphoma, Recurrent staphylococcal infections, Lymphaden... ORPHA:331235
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level, Acute monocytic leukemia OMIM:202700
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... OMIM:308230
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... ORPHA:540
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Persistence of primary teeth, Increased circulatin... OMIM:147060
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Recurrent urinary tract infections, Sinusitis, Hypou... OMIM:613179
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Pan... OMIM:615214
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Lymphoproliferative disorder, Recurrent viral infections, Recurrent pn... OMIM:614868
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent pn... ORPHA:277
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections... OMIM:615468
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, B-cell lymphoma, Recurrent upper respiratory tract infections, Bronchiect... OMIM:616005
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent viral infections, Lymphadenitis, Decreased circulating antibody level, Decre... ORPHA:331206
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent... OMIM:618048
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, B-cell lymphoma, Persistent EBV viremia OMIM:619437
Wiskott-Aldrich Syndrome
Recurrent herpes, Lymphoproliferative disorder, Eczema, Reduced natural killer cell activity, Inc... OMIM:301000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Immunodeficiency 96
Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... OMIM:619774
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Recurren... ORPHA:911
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Carious teeth, Recurrent pneumonia, Impaired ADP-induced pl... OMIM:608233
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hypertriglyceridemia, Skin rash, Reduced natural killer cell activ... OMIM:603553
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Decreased lymphocyte prolifera... OMIM:606367
Pgm3-Cdg
Recurrent viral infections, Sepsis, Increased circulating IgG level, Chronic otitis media, Membra... ORPHA:443811
Immunodeficiency 64 With Lymphoproliferation
B-cell lymphoma, Increased circulating IgA level, Bronchiectasis, Recurrent infections, Increased... OMIM:618534
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... ORPHA:51636
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c... OMIM:618131
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... OMIM:615816
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Pustule, Recurrent viral inf... ORPHA:35078
Specific Granule Deficiency 2
Myelodysplasia, Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis med... OMIM:617475
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent uppe... OMIM:600802
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... ORPHA:48435
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... OMIM:242700
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia OMIM:610738
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased lymphocyte proliferation i... ORPHA:221139
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections, Kaposi's sarcoma, Amelogenesis imperfecta OMIM:612783
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Roifman Syndrome
Eczema, Recurrent pneumonia, Decreased circulating antibody level, Recurrent otitis media, Decrea... ORPHA:353298
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot... OMIM:116920
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Elevated circulating creatine kinase concentration, Decreased specific ... OMIM:614576
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... OMIM:242840
Mannosidosis, Alpha B, Lysosomal
Mandibular prognathia, Malar flattening, Recurrent bacterial infections, Decreased circulating an... OMIM:248500
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating copper concentration, Decreased circulatin... OMIM:300972
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Immunodeficiency 21
Osteomyelitis, Myelodysplasia, Recurrent viral infections, Recurrent fungal infections, Recurrent... OMIM:614172
Chédiak-Higashi Syndrome
Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... ORPHA:167
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Acute myeloid leukemia, Sinusitis, Skin rash, Pneumonia, Eczema, Osteo... ORPHA:811
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Meningitis, Lymphoma, Uveitis, Arthritis, Recurrent bacterial infections... ORPHA:36412
Kenny-Caffey Syndrome, Type 1
Carious teeth, Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia, Calvarial osteoscler... OMIM:244460
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Hypertriglyceridemia, Recurrent upper respiratory tract infections ORPHA:66628
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Abnormal circulating serin... ORPHA:470
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Recurrent skin infections, Sepsis OMIM:612840
Schimke Immuno-Osseous Dysplasia
Lymphoproliferative disorder, Impaired T cell function, Minimal change glomerulonephritis, Abnorm... ORPHA:1830
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Hypertriglyceridemia, Recurrent upper respiratory tract infections ORPHA:179494
Idiopathic Bronchiectasis
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre... ORPHA:60033
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Impaired T cell function, Recurrent candida infections OMIM:201100
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Myelodysplasia, Hyperkalemia, Sepsis, Recurrent... OMIM:617053
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Chromomycosis
Keratitis, Squamous cell carcinoma, Recurrent bacterial infections, Keratoconjunctivitis sicca, M... ORPHA:182
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circulating C-react... OMIM:619573
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Recurrent bacterial in... OMIM:615895
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Bronchiectasis, Recurrent... ORPHA:244
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... ORPHA:542323
Velocardiofacial Syndrome
Hypocalcemia, Retrognathia, Impaired T cell function, Recurrent infections OMIM:192430
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... OMIM:612541
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Carious teeth, Hyperlipidemia, Enterocolitis, Ulcerative colitis, Gout, Thy... ORPHA:79259
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Poly... ORPHA:171
Orotic Aciduria
Impaired T cell function OMIM:258900
Glycogen Storage Disease Ib
Hyperlipidemia, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Hyperu... OMIM:232220
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function, Recurrent viral infections OMIM:176690
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation... OMIM:181000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Abnormal dental enamel morphology, Kerati... ORPHA:2273
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
22Q11.2 Deletion Syndrome
Acne, Impaired T cell function, Abnormal dental enamel morphology, Seborrheic dermatitis, Microgn... ORPHA:567
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Micrognathia, Recurrent pneumonia, Recurre... OMIM:188400
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... ORPHA:544482
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... ORPHA:642
Takayasu Arteritis
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis ORPHA:3287

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 Il12b

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 Il12b.

No publications found that use IMPC mice or data for Il12b.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Il12btm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Il12btm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il12bem1(IMPC)H Inter-exon deletion Mice
Il12btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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