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Gene: Tlr3 MGI:2156367

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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 3
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 Tlr3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tlr3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Mental deterioration, Herpes simplex encephalitis OMIM:613002
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930

The table below shows human diseases predicted to be associated to Tlr3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Immunodeficiency 20
Severe varicella zoster infection, BCGitis, Recurrent otitis media, Recurrent viral upper respira... OMIM:615707
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation OMIM:614493
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob... OMIM:300400
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Hjv Or Hamp-Related Hemochromatosis
Impotence, Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Increased circul... ORPHA:79230
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Recurrent ... OMIM:619281
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Immunodeficiency 81
Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced natural ki... OMIM:619374
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Agammaglobulinemia, Reduced antigen-specific T cell proliferati... OMIM:615206
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Abnormal natu... OMIM:613101
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Episodic hyperhidrosis, Hypertrop... ORPHA:276575
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Recurrent hypoglycemia, Hypertrophi... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Arrhythmia, Cirrhosis, Elevated jugular venous pressure, Hepatomegaly, Hypogonadot... ORPHA:465508
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,... OMIM:609812
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Infectious encephalitis, D... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent otiti... OMIM:615559
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertension, Hypertriglyceridemia, Hepatomeg... OMIM:608600
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... OMIM:615615
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Immunodeficiency 66
Meningitis, Defective T cell proliferation, Sepsis OMIM:618847
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... ORPHA:99886
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Neuropathy, Hereditary Sensory, Type Ie
Memory impairment, Dementia, Osteomyelitis, Irritability, Ataxia, Delirium, Impulsivity OMIM:614116
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Motor deterioration, Social and occupational deterioratio... ORPHA:168782
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:607594
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... OMIM:203800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Congestive heart failure, Irritability, Aggressive behavior, Hype... ORPHA:3077
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Primary amenorrhea, Tachycardia, Retrobulbar optic neuritis, Hypergonadotropic hyp... OMIM:619737
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment ORPHA:309246
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle... ORPHA:319552
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Mahvash Disease
Palpitations, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasi... OMIM:619290
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is... ORPHA:90065
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyper... ORPHA:681
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Meningitis OMIM:616050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Lack of T cell function, Incre... ORPHA:277
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Absent g... OMIM:615710
Immunodeficiency 96
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Defecti... OMIM:619774
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Meningitis, Tachycardia, Recurrent skin infections, Shock, Elevated circulati... ORPHA:36234
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Glycosuria, Priapism, Congestive heart failure, Bundle branc... ORPHA:466677
Susac Syndrome
Somatic sensory dysfunction, Confusion, Abnormal emotion, Gait ataxia, Cognitive impairment ORPHA:838
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Increased circulating androge... ORPHA:769
Necrotizing Enterocolitis
Hypotension, Shock, Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia, Peritonitis, Brady... ORPHA:391673
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Impaired memory B cell g... OMIM:308230
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Splenomegaly, Hepatomegaly, Arthritis, Elevated circulating C-reactive protein concent... ORPHA:85414
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri... ORPHA:563
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Chronic mu... ORPHA:572
Legionnaires Disease
Hypotension, Sepsis, Hepatitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Arrhythmia, ... ORPHA:549
Congenital Enterovirus Infection
Hypoalbuminemia, Hypotension, Sepsis, Hepatitis, Cardiomyopathy, Cholestasis, Hyperammonemia, Ski... ORPHA:292
Scedosporiosis
Pneumonia, Unusual CNS infection, Unusual skin infection, Invasive fungal infection, Sepsis, Sept... ORPHA:449280
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... ORPHA:263455
Antisynthetase Syndrome
Aortic regurgitation, Xerostomia, Skin rash, Elevated circulating creatine kinase concentration, ... ORPHA:81
Bardet-Biedl Syndrome 9
Irregular menstruation, Hyperglycemia OMIM:615986
Wiskott-Aldrich Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased specific anti-polysa... OMIM:301000
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Hypotension, Uveitis, Splenomegaly, Infectious e... ORPHA:3452
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive... ORPHA:83471
Rat-Bite Fever
Sepsis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthri... ORPHA:31205
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Thyrotoxicosis with toxic multinodular goiter, ... ORPHA:79102
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Felty Syndrome
Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent urinary tract infections... ORPHA:47612
Aicardi-Goutieres Syndrome 6
Dystonia, Increased circulating Interferon-alpha concentration, Tremor OMIM:615010
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent otitis media, Impaired ADP-induced platelet aggregation, Recurrent... OMIM:608233
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Abnormal hepatic glycogen storage, Increased hepatic glyc... ORPHA:2088
Immune-Mediated Necrotizing Myopathy
Congestive heart failure, Palpitations, Skin rash, Elevated circulating creatine kinase concentra... ORPHA:206569
Beta-Ketothiolase Deficiency
Hypotension, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly, Hypertension ORPHA:134
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferatio... OMIM:600802
Adult-Onset Still Disease
Hepatitis, Abnormal circulating lipid concentration, Increased circulating ferritin concentration... ORPHA:829
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Drug-Induced Lupus Erythematosus
Malar rash, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, El... ORPHA:231111
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, R... ORPHA:99885
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria ORPHA:2089
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Ovar... OMIM:269880
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Pancreatic aplasia OMIM:609069
Polyarteritis Nodosa
Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive protein concentration, Hypert... ORPHA:767
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A... ORPHA:178320
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Recurrent urinary tract infections, Hepatosplenomegaly, Portal... OMIM:619487
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteom... ORPHA:2552
Q Fever
Pneumonia, Unusual infection, Vasculitis, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormali... ORPHA:781
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Granulomatosis With Polyangiitis
Prostatitis, Arrhythmia, Inflammatory abnormality of the eye, Elevated circulating C-reactive pro... ORPHA:900
Scrub Typhus
Hypotension, Splenomegaly, Skin rash, Infectious encephalitis, Hyperhidrosis, Myocarditis, Mening... ORPHA:83317
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity, Meningitis, Infectious encephalitis OMIM:603553
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
Shigellosis
Pneumonia, Hypovolemic shock, Sepsis, Conjunctivitis, Hypoglycemia, Ulcerative colitis, Cholestas... ORPHA:810
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Uveitis, Erysipelas, Fasciitis, Splenomegaly, Skin rash, Orchitis, Myositis, Peritoni... ORPHA:32960
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Skin rash, Splenomegaly, Infectious encephalitis, Arrhy... ORPHA:3386
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Hyperbilirubinemi... OMIM:227810
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Uveitis, Epistaxis, Congestive heart failure, Episclerit... ORPHA:727
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hyperammonemia, Hypoglycemia OMIM:615453
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancreas physiology, Hepati... ORPHA:93111
Familial Mediterranean Fever
Erysipelas, Splenomegaly, Orchitis, Crohn's disease, Hepatomegaly, Peritonitis, Elevated circulat... OMIM:249100
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Pneumonia, Hypertensive crisis, Septic arthritis, B... ORPHA:544482
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Reduced delayed hypersensitivity, Pyoderma, Recu... OMIM:242700
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension ORPHA:440713
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Recurrent upper respiratory tract infections, Central hypothyroidism, Incre... ORPHA:293987
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Erythema nodosum, Hepatomegaly, Jaundice, Tachycardia, Epididymitis, Diffuse a... ORPHA:99827
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Catastrophic Antiphospholipid Syndrome
Arterial occlusion, Pulmonary embolism, Transient ischemic attack, Abnormal circulating cytokine ... ORPHA:464343
Rheumatic Fever
Epistaxis, Recurrent pharyngitis, Arrhythmia, Arthritis, Sinusitis, Myocarditis, Endocarditis, Pe... ORPHA:3099
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Cardiomyopathy, Hypocholester... OMIM:212065
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Decreased circulating IgG1 level... ORPHA:90363
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Xerostomia, Splenomegaly, Skin rash, Myositis, Gastritis, Keratoconj... ORPHA:809
Marburg Hemorrhagic Fever
Increased circulating antibody level, Jaundice, Tachycardia, Shock, Elevated circulating creatini... ORPHA:99826
Atypical Werner Syndrome
Aortic valve stenosis, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type... ORPHA:79474
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Listeriosis
Arteritis, Pustule, Jaundice, Meningitis, Endocarditis, Unusual CNS infection, Unusual skin infec... ORPHA:533
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Hypocal... ORPHA:64744
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Kawasaki Disease
Hypoalbuminemia, Vasculitis, Hepatitis, Conjunctivitis, Congestive heart failure, Cholecystitis, ... ORPHA:2331
Lujo Hemorrhagic Fever
Hypotension, Severe viral infection, Shock, Skin rash, Maculopapular exanthema, Myocarditis, Hype... ORPHA:319213
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Erythema nodosum, Unusual CNS infection, Vasculitis... ORPHA:228123
Zygomycosis
Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Unusual skin infe... ORPHA:73263
Tyrosinemia, Type I
Hypermethioninemia, Gastrointestinal hemorrhage, Melena, Hypoglycemia, Hypertrophic cardiomyopath... OMIM:276700
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Familial Chylomicronemia Syndrome
Memory impairment, Depression, Pulmonary embolism, Abnormal emotion, Recurrent pancreatitis, Peri... ORPHA:444490
Congenital Syphilis
Pneumonia, Keratitis, Hypoglycemia, Hepatosplenomegaly, Synovitis, Pancreatitis, Myocarditis, Pro... ORPHA:499009
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hypertrophic cardiomyopat... ORPHA:508
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ... OMIM:613179
Simple Cryoglobulinemia
Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Nephritis, Cong... ORPHA:91139
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hypertroph... OMIM:124000
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Pericarditis, Congestive heart failure ORPHA:163596
Immunodeficiency 58
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:618131
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ski... ORPHA:183
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Elevated... ORPHA:93672
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Systemic Sclerosis
Intestinal bleeding, Right ventricular failure, Nail bed telangiectasia, Osteomyelitis, Elevated ... ORPHA:90291
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Myocardial infarction, Ar... ORPHA:892
Behçet Disease
Mitral regurgitation, Meningitis, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestina... ORPHA:117
Bardet-Biedl Syndrome
Inflammation of the large intestine, Type II diabetes mellitus, Hepatic steatosis, Cryptorchidism... ORPHA:110
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Hypernatremia OMIM:620423
Glycogen Storage Disease Ib
Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Splenomegaly, Hyperuricemia, G... OMIM:232220
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,... OMIM:617321
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Congestive heart failure, Constrictive pericarditis, Acute colitis, Liver abscess ORPHA:67
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypertension, Emotional lability OMIM:219090
Nocardiosis
Pneumonia, Unusual CNS infection, Sepsis, Brain abscess, Lymphadenitis, Cutaneous abscess, Kerati... ORPHA:31204
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Pancreatic hypoplasia, Hyperglycemia, Absent gallbladder, Biliary atresia, Diabetes m... OMIM:600001
Colchicine Poisoning
Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Hypokalem... ORPHA:31824
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Decreased T cell activation, Defective T cell proliferation, Can... OMIM:618213
Familial Mediterranean Fever
Vasculitis, Erysipelas, Splenomegaly, Skin rash, Orchitis, Peritonitis, Arrhythmia, Pancreatitis,... ORPHA:342
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... ORPHA:449432
Giant Cell Arteritis
Vasculitis, Epistaxis, Cerebral ischemia, Arrhythmia, Hyperhidrosis, Arthritis, Recurrent pharyng... ORPHA:397
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Hyperglycemia, A... ORPHA:444077
Leptospirosis
Hypotension, Uveitis, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Retinal hemorr... ORPHA:509
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:603909
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Episclerit... ORPHA:728
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... OMIM:167800
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic beta cells, Insulin-resistant diabetes... OMIM:226980
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Decreased specific anti-polysaccharide antibody level, Impaired T cell func... OMIM:614576
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Kikuchi-Fujimoto Disease
Vasculitis, Malar rash, Enlargement of parotid gland, Splenomegaly, Skin rash, Pustule, Hepatomeg... ORPHA:50918
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia, Hyperammonemia, Mitral regurgitation, M... OMIM:220111
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Dermatomyositis
Vasculitis, Heliotrope rash, Sinus tachycardia, Skin rash, Elevated circulating creatine kinase c... ORPHA:221
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Aortic valve stenosis, Pneumonia, Abnormal fear-induced behavior, Emotio... ORPHA:353281
African Trypanosomiasis
Hepatosplenomegaly, Arrhythmia, Hepatomegaly, Jaundice, Third degree atrioventricular block, Impo... ORPHA:3385
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:3243
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Recurrent urinary tract infections, Os... ORPHA:29207
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Knee osteoarthritis, Osteoarthritis of the elbow, Mitral regurgitation, Pericarditis ORPHA:2848
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:66628
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:179494
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Supernumerary nipple, Increased circulating IgE level, Polysplenia, Bundle branch b... ORPHA:373
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Esophagitis, Telan... ORPHA:3342
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Mental deterioration, Herpes simplex encephalitis OMIM:613002
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Aortic valve stenosis, Pneumonia, Abnormal fear-induced behavior, Abnorm... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Aortic valve stenosis, Pneumonia, Abnormal fear-induced behavior, Abnorm... ORPHA:353277
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion ORPHA:37202
Blau Syndrome
Posterior uveitis, Keratitis, Xerostomia, Abnormality of the liver, Large vessel vasculitis, Sple... ORPHA:90340
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Bone marrow hypocellularity, Recurrent infections, Impaired T cel... ORPHA:1830
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Cryptorchidism, Hypoglycemia OMIM:267000
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Synovitis, Arthritis, Erythema nodosum,... OMIM:186580
Tetrasomy 9P
Recurrent urinary tract infections, Absent gallbladder, Cryptorchidism, Glue ear, Biliary atresia... ORPHA:3310
Orotic Aciduria
Impaired T cell function OMIM:258900
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification OMIM:215140
Beckwith-Wiedemann Syndrome
Hypoglycemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Hypertrophic cardi... ORPHA:116
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Panhypogammaglobulinemia, Abnormal circulating interleukin concentration, Abnormal circulating in... ORPHA:79124
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Aymé-Gripp Syndrome
Breast hypoplasia, Cryptorchidism, Pericarditis ORPHA:1272
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Pmm2-Cdg
Hypoalbuminemia, Insulin resistance, Hepatic fibrosis, Elevated circulating thyroid-stimulating h... ORPHA:79318
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Simpson-Golabi-Behmel Syndrome, Type 1
Polysplenia, Supernumerary nipple, Cardiomyopathy, Cryptorchidism, Pancreatic islet-cell hyperpla... OMIM:312870
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Abnormal circulating interferon-gamm... ORPHA:391487
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Ayme-Gripp Syndrome
Pericarditis OMIM:601088
Digeorge Syndrome
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Recurrent sinusitis, Recur... OMIM:188400
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930

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 Tlr3

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 Tlr3.

No publications found that use IMPC mice or data for Tlr3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tlr3tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Tlr3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tlr3tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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