Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
toll-like receptor 1
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tlr1 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 Tlr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Complement Component 7 Deficiency
Decreased serum complement C7, Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Complement Component 6 Deficiency
Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen... OMIM:612446
Complement Factor D Deficiency
Complement deficiency, Recurrent bacterial infections OMIM:613912
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
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
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Complement Component 8 Deficiency, Type Ii
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections OMIM:613789
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level OMIM:615206
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:613501
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio... OMIM:606843
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... OMIM:614372
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections OMIM:615214
Immunoglobulin M, Level Of
Meningitis, Decreased circulating total IgM OMIM:308250
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis OMIM:619549
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... OMIM:300310
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Secretory Component Deficiency
Secretory IgA deficiency, Chronic intestinal candidiasis OMIM:269650
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... OMIM:137100
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent infections, Decreased... OMIM:616452
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... OMIM:609529
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM OMIM:606445
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections OMIM:617744
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating antib... OMIM:300988
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Complement Factor H Deficiency
Recurrent bacterial infections, Depletion of components of the alternative complement pathway, De... OMIM:609814
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... OMIM:607676
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM OMIM:610798
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:240500
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease, Decreased serum comp... OMIM:615561
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgA level, Defective B... OMIM:617765
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l... OMIM:193670
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... OMIM:608184
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM OMIM:618987
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Decreased circulating IgA level, Recurrent fungal infections, Reduced natural... OMIM:300400
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased circulating IgG level, Recurrent otitis media, Inc... OMIM:618944
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:607594
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Decreased circulating antibody level, Recurre... OMIM:601495
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... ORPHA:319552
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... OMIM:209920
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Decreased serum complement C3 OMIM:613779
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Candidiasis, Familial, 2
Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Increased circulating IgE level... OMIM:212050
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Immunodeficiency 48
Panhypogammaglobulinemia, Recurrent candida infections OMIM:269840
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level ORPHA:169079
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Dec... ORPHA:276
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Recurrent infections OMIM:616098
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Increased circulating antibody level, Recurrent otitis media,... OMIM:618495
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Recurrent ear infections, Recurrent sinopulmonary... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... ORPHA:169160
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Reduced natural killer cell activity, Decreased circulating IgG ... OMIM:619281
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Recurrent viral upper respiratory tract infections, Decreased ci... OMIM:615577
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Lack of T cell... ORPHA:572
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:243700
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Impaired memory B cell g... OMIM:308230
Complement Component 5 Deficiency
Reduced hemolytic complement activity, Decreased serum complement C5, Recurrent meningococcal dis... OMIM:609536
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Recurrent upper and lower respira... ORPHA:70593
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:859
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Recurrent infections, Decreased circulating total IgM, Bronchiol... OMIM:614878
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurrent infections, R... OMIM:616576
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Recurrent otitis media, Recurrent infections, Increased circulating ... OMIM:618982
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circulating antib... OMIM:616740
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... OMIM:618969
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Dec... ORPHA:331206
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Chroni... ORPHA:83471
Immunodeficiency 36
Recurrent bacterial infections, Recurrent respiratory infections, Decreased circulating antibody ... OMIM:616005
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Myeloma, Multiple
Paraproteinemia OMIM:254500
Complement Factor I Deficiency
Decreased serum complement factor H, Recurrent otitis media, Decreased serum complement factor B,... OMIM:610984
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... ORPHA:183675
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent otitis media, Recurrent infections, ... OMIM:615207
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM ORPHA:2643
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... OMIM:307200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating a... OMIM:616100
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Immunodeficiency 52
Decreased circulating antibody level, Recurrent infections, Recurrent pneumonia, Persistent CMV v... OMIM:617514
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... OMIM:308240
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased circulating IgG le... OMIM:618394
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... ORPHA:331235
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Recurrent infections, Transient hypogammaglobulinemia of infancy OMIM:251240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Meningitis, Panhypogammaglobulinemia, Recurr... OMIM:601457
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... ORPHA:70578
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Acute Lung Injury
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of tumor ne... ORPHA:178320
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Severe varicella zoster infection, Decreased circulating IgA leve... OMIM:606367
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM OMIM:251190
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619510
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Lack of T cell function, Recurrent opportunist... ORPHA:35078
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... OMIM:233710
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Impaired T cell function, Rec... OMIM:613179
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Lymphoproliferative Syndrome 2
Sepsis, Severe varicella zoster infection, Decreased circulating antibody level, Recurrent infect... OMIM:615122
Immunodeficiency 92
BCGosis, Decreased circulating IgA level, Recurrent oral herpes, Decreased circulating IgG level,... OMIM:619652
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Recurrent infections OMIM:618048
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Rec... OMIM:102700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616910
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Recurrent Aspergillu... OMIM:306400
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infections OMIM:246550
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Recurrent viral infections, Decreased lymphocyte proliferation i... ORPHA:169154
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent respiratory infections, Recurrent infections, Dec... OMIM:614470
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Cystic Fibrosis
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:586
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... ORPHA:169090
Macrophage Activation Syndrome
Increased circulating interleukin 6, Increased serum interferon-gamma level, Abnormality of tumor... ORPHA:158061
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections OMIM:241600
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Decreased circulating total IgA, Decreased specific antibody resp... ORPHA:221139
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent sin... OMIM:613101
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in response to anti-... OMIM:600802
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... OMIM:242840
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent otitis media, Recurrent pneumonia OMIM:617475
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Decreased circulating antibody level, Bone marrow hypocellularity OMIM:618116
Immunodeficiency 23
Severe varicella zoster infection, Increased circulating IgG level, Chronic mucocutaneous candidi... OMIM:615816
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections OMIM:605309
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Decreased circulating a... ORPHA:540
Xq28 (MECP2) duplication
Decreased circulating IgA level, Recurrent respiratory infections DECIPHER:45
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Decreased specific antibody response to vaccination, Decreased circulating IgA level, Dec... OMIM:614700
Pgm3-Cdg
Recurrent bacterial infections, Sepsis, Increased circulating IgA level, Recurrent fungal infecti... ORPHA:443811
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent gram-negative bact... OMIM:116920
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Recurrent bacterial infections OMIM:603585
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Recurrent respiratory infection... OMIM:618108
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent ear ... ORPHA:486
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating total IgG,... OMIM:300972
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Pyoderma, Recu... OMIM:300755
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Reduced natural killer cell activity, Chronic oral candidiasis, R... OMIM:608233
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Cryoglobulinemia, I... ORPHA:48435
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgA level, Abnormal delayed hypersensitivity skin test, Decreased specific ... OMIM:600903
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Wiskott-Aldrich Syndrome
Sepsis, Recurrent herpes, Increased circulating IgA level, Recurrent otitis media, Abnormal delay... OMIM:301000
Immunodeficiency 58
Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... OMIM:618131
Whim Syndrome
Recurrent bacterial infections, Sepsis, Decreased circulating antibody level, Meningitis, Recurre... ORPHA:51636
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Sweet Syndrome
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... ORPHA:3243
Hypocomplementemic Urticarial Vasculitis
Complement deficiency, Meningitis, Recurrent bacterial infections ORPHA:36412
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent upper respiratory tra... OMIM:210900
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Chédiak-Higashi Syndrome
Recurrent bacterial infections, Abnormal platelet function, Recurrent infections, Recurrent staph... ORPHA:167
Bloom Syndrome
Severe toxoplasmosis, Severe varicella zoster infection, Recurrent herpes, Decreased circulating ... ORPHA:125
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Ataxia-Telangiectasia
Recurrent bronchitis, Decreased circulating IgA level, Defective B cell differentiation, Decrease... OMIM:208900
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Impaired neutrophil bactericidal activity, Recurrent infecti... OMIM:214500
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Sepsis, BCGosis, Recurrent fungal infections, Chronic oral candid... ORPHA:2968
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Increased circulating IgA level, Decreased circulating IgG level... ORPHA:2442
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent viral infections, Rec... ORPHA:420741
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Recurrent respiratory infections OMIM:612541
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections OMIM:617053
Chromomycosis
Recurrent bacterial infections ORPHA:182
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent infections, Decr... ORPHA:90363
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Recurrent respiratory infections OMIM:613385
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines OMIM:612132
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Recurrent infections OMIM:613327
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial infections ORPHA:244
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Recurrent fungal infec... OMIM:619573
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Sepsis, Recurrent viral infections, Bone marrow hypocellularity, ... ORPHA:811
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Decreased circulating IgG level, Bone marrow hypocellularity, In... ORPHA:3261
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:223370
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level OMIM:208910
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Lysinuric Protein Intolerance
Recurrent bacterial infections, Decreased circulating antibody level, Complement deficiency, Incr... ORPHA:470
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgA, Decreased circulating total IgG, Decreased lymphocyte proliferat... OMIM:619381
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections ORPHA:2273
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Abnormality of humoral immunity ORPHA:642
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472

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 Tlr1

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 Tlr1.

There are 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Role of Endosomal TLRs in Staphylococcus aureus Infection. Journal of immunology (Baltimore, Md. : 1950) (August 2021) Tlr13tm1.1(KOMP)Vlcg 34362834
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tlr11em1(IMPC)Wtsi Tlr12em1(IMPC)Wtsi PMC7263671
Nucleic Acid-Sensing Toll-Like Receptors Play a Dominant Role in Innate Immune Recognition of Pneumococci. mBio (March 2020) Tlr13tm1(KOMP)Vlcg PMC7157524
Neutrophil extracellular trap-associated RNA and LL37 enable self-amplifying inflammation in psoriasis. Nature communications (January 2020) Tlr13tm1(KOMP)Vlcg PMC6949246
Neutrophils Enhance Their Own Influx to Sites of Bacterial Infection via Endosomal TLR-Dependent Cxcl2 Production. Journal of immunology (Baltimore, Md. : 1950) (December 2019) Tlr13tm1.1(KOMP)Vlcg 31852751
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tlr11em1(IMPC)Wtsi Tlr12em1(IMPC)Wtsi PMC6671969
TLR sensing of bacterial spore-associated RNA triggers host immune responses with detrimental effects. The Journal of experimental medicine (April 2017) Tlr13tm1(KOMP)Vlcg PMC5413331
Neutrophils Directly Recognize Group B Streptococci and Contribute to Interleukin-1β Production during Infection. PloS one (August 2016) Tlr13tm1.1(KOMP)Vlcg PMC4980021
Innate immune response to Streptococcus pyogenes depends on the combined activation of TLR13 and TLR2. PloS one (March 2015) Tlr13tm1(KOMP)Vlcg PMC4355416

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MGI Allele Allele Type Produced
Tlr1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tlr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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