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Gene: Tlr1 MGI:1341295

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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:
toll-like receptor 1
Synonyms:
N/A

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 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 protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Complement Component 7 Deficiency
Recurrent meningococcal disease, Decreased serum complement C7, Recurrent Neisserial infections OMIM:610102
Complement Component 6 Deficiency
Recurrent meningococcal disease, Decreased serum complement C6, Reduced hemolytic complement acti... 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 candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
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 11
Decreased circulating antibody level, Recurrent respiratory infections OMIM:615206
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... OMIM:614372
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections OMIM:615214
Immunoglobulin M, Level Of
Meningitis, Decreased circulating total IgM OMIM:308250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616911
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... OMIM:137100
Secretory Component Deficiency
Secretory IgA deficiency, Chronic intestinal candidiasis OMIM:269650
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media OMIM:616941
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... OMIM:609529
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections OMIM:606445
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Recurrent respiratory i... OMIM:300988
Immunodeficiency 44
Decreased circulating IgA level, Abnormal circulating IgG level, Decreased circulating total IgM,... OMIM:616636
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Abnormal l... OMIM:613953
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:614868
Complement Factor H Deficiency
Decreased serum complement factor H, Recurrent bacterial infections, Depletion of components of t... OMIM:609814
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating antibody level, Decreased circulating IgG l... OMIM:193670
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections, Decreased serum comp... OMIM:615561
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch... OMIM:300400
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Impaired Ig cl... OMIM:608184
Complement Component 3 Deficiency, Autosomal Recessive
Decreased serum complement C3, Recurrent bacterial infections, Recurrent pneumonia, Recurrent ton... OMIM:613779
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607594
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:209920
Complement Component 5 Deficiency
Recurrent meningococcal disease, Reduced hemolytic complement activity, Decreased serum complemen... OMIM:609536
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Decreased c... OMIM:619773
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Inc... OMIM:243700
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:276
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Immunodeficiency 96
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... OMIM:615139
Adult Idiopathic Neutropenia
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... ORPHA:2688
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Decreased specific pneumococcal antibody level, Recurrent ear... OMIM:615513
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... OMIM:601495
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Candida esophagitis, Decreased ... OMIM:619281
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Recurrent protozoan infections, Recurrent candida infections, Recurrent ... ORPHA:572
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619824
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... ORPHA:70593
Immunodeficiency, Common Variable, 10
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h... OMIM:615577
Immunodeficiency 48
Recurrent candida infections, Recurrent respiratory infections, Panhypogammaglobulinemia OMIM:269840
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody level, Recurrent sin... OMIM:616740
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent infections, Recurrent oti... OMIM:618982
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, Decreased ... OMIM:618969
Complement Factor I Deficiency
Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser... OMIM:610984
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:331206
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:616005
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Thymic Aplasia
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Recurren... ORPHA:83471
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Complete or near-complete absence ... OMIM:610163
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Myeloma, Multiple
Paraproteinemia OMIM:254500
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent tonsillitis, Pulmonar... ORPHA:183675
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent St... OMIM:147060
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased circulating IgG level OMIM:312863
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Panhypogammaglobulinemia, Recurrent sinusitis,... OMIM:615207
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... OMIM:307200
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Recurrent bacterial infections, ... OMIM:618048
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased cir... OMIM:614878
Immunodeficiency 52
Decreased circulating antibody level, Recurrent pneumonia, Recurrent infections, Persistent EBV v... OMIM:617514
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Decreased circulating antibody level, Recurrent pneumonia, Recurrent infecti... OMIM:616576
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Enteroviral dermatomyositis syn... OMIM:300755
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Meningitis, Recurrent opportunistic infectio... OMIM:601457
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:618394
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... ORPHA:331235
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:616100
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233710
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections 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
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Recurrent inf... ORPHA:35078
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial infections, Recurr... OMIM:613179
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased circulating anti... OMIM:619846
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... ORPHA:911
Lymphoproliferative Syndrome 2
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Severe varicel... OMIM:615122
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619752
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:233690
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Severe Epstein Barr virus infection, Reduced natural killer cell... OMIM:308240
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616910
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169154
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Recurrent fungal infections, Absent specific antibody response, ... OMIM:102700
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Alopecia Antibody Deficiency
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:1006
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis, Recurrent infections, Recur... OMIM:614470
Cystic Fibrosis
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:586
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... ORPHA:169090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... OMIM:600802
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections OMIM:241600
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Recurrent upper respiratory tract infections, Abnormal natural killer cell p... OMIM:613101
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... OMIM:242840
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otitis media OMIM:617475
Immunodeficiency 23
Increased circulating IgG level, Severe varicella zoster infection, Recurrent staphylococcal infe... OMIM:615816
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Recurrent respiratory infections OMIM:618042
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocutaneous candid... OMIM:116920
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Decreased circulating antibody level, Recurrent respiratory infections OMIM:618116
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections OMIM:605309
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Xq28 (MECP2) duplication
Decreased circulating IgA level, Recurrent respiratory infections DECIPHER:45
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618108
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Pgm3-Cdg
Recurrent fungal infections, Increased circulating IgA level, Sepsis, Recurrent bacterial infecti... ORPHA:443811
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... OMIM:306400
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent ear ... ORPHA:486
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:614700
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619802
Omenn Syndrome
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:603554
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:300972
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620040
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Recurrent bacterial infections, Reduced natural killer cell activity, I... OMIM:608233
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Postinfectious Vasculitis
Recurrent candida infections, Increased circulating antibody level, Recurrent streptococcus pneum... ORPHA:48435
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Opportunistic infection, Decrea... ORPHA:90362
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Immunodeficiency 58
Onychomycosis, Recurrent upper respiratory tract infections, Helicobacter pylori infection, Decre... OMIM:618131
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Whim Syndrome
Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Meningitis,... ORPHA:51636
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Complement deficiency ORPHA:36412
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent bacterial infections, Abnormal platelet function, ... ORPHA:167
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612301
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
Bloom Syndrome
Recurrent gastroenteritis, Decreased circulating IgA level, Decreased circulating IgG level, Recu... ORPHA:125
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... ORPHA:2442
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections... OMIM:214500
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Abnormality of neutrophil physiology, Chronic oral candidiasis, Recu... ORPHA:2968
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, Decreased circulating total IgM... ORPHA:420741
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections OMIM:617053
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respi... OMIM:612541
Ataxia-Telangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:208900
Chromomycosis
Recurrent bacterial infections ORPHA:182
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Recurrent respiratory infections OMIM:613385
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:79330
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating antibody ... ORPHA:90363
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Recurrent pneumonia, Recurrent infections OMIM:613327
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media ORPHA:244
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines OMIM:612132
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... ORPHA:508533
Shwachman-Diamond Syndrome
Sepsis, Recurrent bacterial infections, Impaired neutrophil chemotaxis, Bone marrow hypocellulari... ORPHA:811
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Sepsis, Recurrent bacterial infections, Severe cytomegalovirus infec... OMIM:619573
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Decr... ORPHA:3261
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:210900
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620005
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
Increased circulating antibody level, Complement deficiency, Recurrent bacterial infections, Abno... ORPHA:470
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:223370
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgA, Decre... OMIM:619381
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of humoral immunity, Recurrent Staphylococcus aureus infections ORPHA:642

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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