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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 bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Complement Component 7 Deficiency
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... OMIM:610102
Complement Component 6 Deficiency
Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre... OMIM:612446
Complement Factor D Deficiency
Recurrent bacterial infections, Partial functional complement factor D deficiency OMIM:613912
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial 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
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
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, Decreased circulating complement C8 concentration OMIM:613789
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis 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 staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... OMIM:615897
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... OMIM:614699
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ... OMIM:609529
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections OMIM:616941
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections OMIM:235900
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... OMIM:619707
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections OMIM:606445
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 62
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Decre... OMIM:618459
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Immunodeficiency 44
Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG level, Post-vac... OMIM:616636
Immunodeficiency 51
Recurrent respiratory infections, Abnormal lymphocyte physiology, Recurrent cutaneous fungal infe... OMIM:613953
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... OMIM:193670
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... OMIM:240500
Complement Factor H Deficiency
Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De... OMIM:609814
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurrent pneumonia, Agamma... OMIM:300400
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Decreased circulating complement factor B concentrati... OMIM:615561
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... OMIM:608184
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections OMIM:615214
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Decreased circulating complement C3 concentr... OMIM:613779
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Immunodeficiency, Common Variable, 1
Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacteri... OMIM:607594
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... ORPHA:98813
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level OMIM:233650
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Complement Component 5 Deficiency
Recurrent Neisserial infections, Decreased circulating complement C5 concentration, Reduced hemol... OMIM:609536
Immunodeficiency 95
Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... OMIM:619773
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Immunodeficiency 15B
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc... OMIM:615592
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased circulating t... OMIM:613496
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... ORPHA:276
Immunodeficiency 37
Recurrent infections, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Immunodeficiency 96
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... OMIM:619774
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... OMIM:308230
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, I... OMIM:615513
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... OMIM:614069
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... OMIM:619281
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Recurrent pneumonia, Recurrent candida infections, Recurrent infections, Increa... ORPHA:169160
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D... OMIM:619824
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Immunodeficiency 46
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Chronic oral ca... OMIM:616740
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr... OMIM:615577
Immunodeficiency 48
Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent candida infections OMIM:269840
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Immunodeficiency 109 With Lymphoproliferation
Decreased lymphocyte proliferation in response to anti-CD3, Persistent EBV viremia, Recurrent sin... OMIM:620282
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Increased cir... OMIM:618982
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Decreased circulating total IgM, Increased circulating IgE leve... OMIM:617638
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... OMIM:614868
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Complement Factor I Deficiency
Recurrent urinary tract infections, Decreased circulating complement factor B concentration, Recu... OMIM:610984
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Decreased circulating antibody level, Decreased circulating total IgM... ORPHA:331206
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Meningitis... ORPHA:83471
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Inc... OMIM:616005
Immunodeficiency 25
Recurrent herpes, Increased circulating IgA level, Increased circulating IgE level, Recurrent pne... OMIM:610163
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections, Recurrent... OMIM:615468
Myeloma, Multiple
Paraproteinemia OMIM:254500
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... OMIM:147060
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent... ORPHA:183675
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Recurrent infections, Persistent EBV viremia, Decrea... OMIM:617514
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurren... OMIM:615207
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating total IgM, Recurrent sinopulmonary infections, Decreased cir... OMIM:614878
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Increased circulating IgE level, Recurrent pneumonia, Chronic m... OMIM:618282
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Increased circulating IgA level, Increased circulating IgG level, Rec... OMIM:618048
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent pneumonia, Recurrent infections, Decreased circulat... OMIM:616576
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased circulating IgE, D... OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent upper respiratory tract infections, Sepsis, Decreased circulating antibody level, Decre... OMIM:616100
Activated Pi3K-Delta Syndrome
Severe varicella zoster infection, Recurrent tonsillitis, Decreased circulating antibody level, S... ORPHA:397596
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Rec... OMIM:606367
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233710
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:178320
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Impaired T cell function, Recurrent viral infections, Recurre... OMIM:613179
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Persistent EBV viremia, Decreased circulating total IgM, Decrea... OMIM:619510
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased circulating anti... OMIM:619846
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Recurrent urinary tract infections, Decreased circulating IgG le... OMIM:620210
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... ORPHA:911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Failure to thrive secon... OMIM:601457
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, EBV encephalitis, Sepsis, Decreased circu... OMIM:615122
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Partial IgA deficiency, Recurrent viral infections, Recurrent o... ORPHA:35078
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233690
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec... OMIM:308240
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating IgA level, Recurrent viral infections, Increased circulati... ORPHA:169154
Immunodeficiency 22
Recurrent upper respiratory tract infections, Decreased circulating total IgM, Decreased circulat... OMIM:615758
Immunodeficiency 92
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Abnormal B cell proliferation, Partial ab... OMIM:619652
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Recurrent viral infections, Increased circulating IgE level, R... OMIM:102700
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Recurrent respiratory infections, Increased circulating antibody ... OMIM:614470
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent upper respiratory tract infections, Sepsis, Recurrent candida infections, Decreased cir... ORPHA:436159
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
Immunodeficiency 23
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... OMIM:615816
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent upper respirato... OMIM:600802
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... OMIM:116920
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Decreased circulating antibody level, Increase... ORPHA:540
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Immunodeficiency 32B
Recurrent respiratory infections, BCGitis, Recurrent infections, Impaired oxidative burst, Abnorm... OMIM:226990
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Partial absence of specific antibody response to tetanus vaccin... OMIM:618108
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Pgm3-Cdg
Recurrent respiratory infections, Increased circulating IgA level, Recurrent viral infections, In... ORPHA:443811
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... ORPHA:486
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:306400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Recurrent pneumonia, Sepsis, Recurrent infections, Decreased ci... OMIM:614700
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Decreased circulating ant... OMIM:619802
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Recurrent infections, Decr... OMIM:300972
Primary Intestinal Lymphangiectasia
Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating total IgM, O... ORPHA:90362
Immunodeficiency 21
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... OMIM:614172
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Postinfectious Vasculitis
Persistent human papillomavirus infection, Increased circulating IgA level, Severe varicella zost... ORPHA:48435
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... OMIM:620040
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... OMIM:608233
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Wiskott-Aldrich Syndrome
Recurrent herpes, Reduced natural killer cell activity, Increased circulating IgA level, Increase... OMIM:301000
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Decreased circulating ... ORPHA:51636
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... OMIM:242840
Sweet Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:3243
Hypocomplementemic Urticarial Vasculitis
Complement deficiency, Recurrent bacterial infections, Meningitis ORPHA:36412
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig... OMIM:607143
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... ORPHA:167
Bloom Syndrome
Recurrent herpes, Recurrent urinary tract infections, Severe varicella zoster infection, Recurren... ORPHA:125
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Riddle Syndrome
Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinus... ORPHA:420741
Mirage Syndrome
Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis OMIM:617053
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent staphylococcal infections... ORPHA:2968
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Ataxia-Telangiectasia
Decreased circulating IgG level, Recurrent bronchitis, Recurrent lower respiratory tract infectio... OMIM:208900
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... OMIM:612541
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Chromomycosis
Recurrent bacterial infections ORPHA:182
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Recurrent infections, Decreased circulating antibody level, Dec... ORPHA:90363
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Decreased circulating IgA level OMIM:613385
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Recurrent infections, Decreased circulating IgA level OMIM:613327
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections ORPHA:244
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Immunodeficiency 87 And Autoimmunity
Abnormal lymphocyte proliferation, Recurrent viral infections, Sepsis, Persistent EBV viremia, Se... OMIM:619573
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent upper respiratory tra... OMIM:210900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre... ORPHA:508533
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Shwachman-Diamond Syndrome
Recurrent viral infections, Sepsis, Recurrent bacterial infections, Bone marrow hypocellularity, ... ORPHA:811
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... ORPHA:3261
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Lysinuric Protein Intolerance
Decreased circulating antibody level, Abnormality of humoral immunity, Recurrent bacterial infect... ORPHA:470
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... OMIM:620005
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Dubowitz Syndrome
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:223370
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Recurrent infections, Decreased circulating total IgM, Recurrent... OMIM:619381
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level OMIM:212750
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Polyclonal elevation of IgM ORPHA:171
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines OMIM:612132
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM ORPHA:83617
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA 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 11 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
Endosomal Toll-Like Receptors 7 and 9 Cooperate in Detection of Murine Gammaherpesvirus 68 Infection. Journal of virology (January 2019) Tlr13tm1(KOMP)Vlcg PMC6340039
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
Sequence specific detection of bacterial 23S ribosomal RNA by TLR13. eLife (October 2012) Tlr13tm1(KOMP)Vlcg PMC3482692

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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
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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