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 9
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tlr9 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 Tlr9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
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, Recurrent protozoan infections, Abnor... OMIM:308220
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 20
BCGitis, Severe varicella zoster infection, Recurrent oral herpes, Recurrent viral upper respirat... OMIM:615707
Secretory Component Deficiency
Chronic intestinal candidiasis, Secretory IgA deficiency OMIM:269650
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Recurrent infections OMIM:614493
Immunodeficiency 18
Recurrent respiratory infections, Recurrent otitis media, Defective T cell proliferation, Recurre... OMIM:615615
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
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
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Severe varicella zoster infection, Defective T ce... OMIM:615897
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Decreased circulating IgA level, Recurrent fungal infections, Chronic oral ca... OMIM:300400
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Antinuclear antibody positivity... OMIM:613495
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... OMIM:137100
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell act... OMIM:619281
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... OMIM:266600
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:605258
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... OMIM:619374
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infections, Autoimmuni... OMIM:609529
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Impaired Ig class... OMIM:608106
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent sin... OMIM:613101
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections OMIM:615214
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:606843
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Reduced natural killer cell activity, Recurrent otitis media, Recurrent infections,... OMIM:615559
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Recurrent urinary tract infections, Increased circulating a... OMIM:618495
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... OMIM:613494
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Reticular Dysgenesis
Sepsis, Lack of T cell function, Impaired T cell function OMIM:267500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... OMIM:607271
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... OMIM:617765
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Immunodeficiency 66
Defective T cell proliferation, Recurrent skin infections, Pustule OMIM:618847
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:240500
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:607594
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Recurrent infections OMIM:613652
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... OMIM:209920
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent skin infections, Co... OMIM:300635
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia, Increased circulating antibody level OMIM:247800
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu... ORPHA:275
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Recurrent opportunistic infections, La... ORPHA:277
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent viral infections, Decreased circulating a... ORPHA:169079
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea OMIM:615767
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... ORPHA:26790
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious encephalitis... ORPHA:540
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Autoimmunity, Increased circulating antibody level, Systemic lupu... ORPHA:411593
Autoinflammation With Infantile Enterocolitis
Meningitis, Reduced natural killer cell activity OMIM:616050
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abno... ORPHA:70578
Autoinflammatory Syndrome, Familial, Behcet-Like
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of ... ORPHA:178320
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 70
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis OMIM:618969
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis OMIM:604416
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Impaired Ig class switch recombination, Bronchiectasis OMIM:608184
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Decreased lymphocyte apoptosis, Recurrent infections, Autoimmune thrombocytopenia, ... OMIM:614470
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmunity, ... ORPHA:572
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abdominal d... ORPHA:95427
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Chronic diarrhea, Crohn's disease, Colitis, Ulcerative colitis OMIM:618394
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi... OMIM:178610
Macrophage Activation Syndrome
Autoimmunity, Increased circulating interleukin 6, Systemic lupus erythematosus, Juvenile rheumat... ORPHA:158061
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal abscess, Skin rash, Diar... OMIM:618108
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Systemic lupus erythematosus, Recurrent otitis media, Autoimmune thrombocytopenia, ... ORPHA:444463
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Arthritis, Chronic gastritis, Di... OMIM:608809
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... OMIM:617241
Immunodeficiency 7
Autoimmunity, Recurrent infections OMIM:615387
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Impaired memory B cell g... OMIM:308230
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in response to anti-... OMIM:600802
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Reduced natural... OMIM:608233
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... ORPHA:411696
Immunodeficiency 36
Recurrent bacterial infections, Autoimmunity, Recurrent respiratory infections, Decreased circula... OMIM:616005
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Chroni... ORPHA:83471
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Autoimmunity, Decreased circulating IgA level, Recurrent fungal i... ORPHA:331206
Trichohepatoenteric Syndrome 2
Diarrhea, Hepatitis, Villous atrophy, Colitis OMIM:614602
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Recurrent opportunistic infections, Lack of T ... ORPHA:35078
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Recurrent pneumonia, Decreased circulating antibody level, Recurrent infections OMIM:617780
C3 Glomerulopathy
Autoimmunity, Paraproteinemia, Recurrent infections, C3 nephritic factor positivity ORPHA:329918
Immunodeficiency 58
Eczema, Allergic rhinitis, Dysphagia, Helicobacter pylori infection, Recurrent cutaneous abscess ... OMIM:618131
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Selective Igm Deficiency
Sepsis, Autoimmunity, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Rec... ORPHA:331235
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Recurrent otitis... OMIM:614700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Autoimmunity, Decreased specific pneumococcal antibody le... ORPHA:183675
Hemophagocytic Lymphohistiocytosis, Familial, 2
Meningitis, Reduced natural killer cell activity, Infectious encephalitis OMIM:603553
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Impaired T cell function, Rec... OMIM:613179
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Rheumatoid arth... ORPHA:48377
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Impaired T cell function OMIM:201100
Shigellosis
Myocarditis, Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Ulcerative colitis, Vomiting, Pne... ORPHA:810
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Chronic ... ORPHA:911
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibod... OMIM:615952
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... ORPHA:37042
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma, Reduced delayed hypersensit... OMIM:242700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... ORPHA:324964
Cyclic Neutropenia
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... ORPHA:2686
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis OMIM:203300
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Crohn's disease, Perianal abscess, Anal fissure, Acute pancreatitis, Recur... OMIM:618935
Lymphoproliferative Syndrome 1
Autoimmunity, Decreased circulating IgG level, Decreased circulating antibody level, Recurrent in... OMIM:613011
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... ORPHA:67
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Rheumatoid arthritis, Abnormal serum interleukin level, Increased serum interferon-... ORPHA:85410
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:601859
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... ORPHA:73263
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Autoimmunity, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... ORPHA:231154
Sweet Syndrome
Increased circulating interleukin 6, Recurrent infections, Abnormality of tumor necrosis factor s... ORPHA:3243
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, I... ORPHA:449400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... ORPHA:90038
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Recurrent pneumonia, Bronchiectasis OMIM:301220
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Cutaneou... OMIM:242840
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... OMIM:600903
Pemphigus Vulgaris
Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Steatorrhea, Exocrine pancreatic insuf... ORPHA:309031
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Psoriasis-Related Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Abnormality of tumor necrosis factor secretion ORPHA:85436
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine OMIM:617718
Sandifer Syndrome
Feeding difficulties, Esophagitis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting OMIM:201475
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... ORPHA:2908
Wiskott-Aldrich Syndrome
Sepsis, Recurrent herpes, Increased circulating IgA level, Recurrent otitis media, Abnormal delay... OMIM:301000
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hepatitis, Gastritis, Crohn's disease, Diarrhea, Abdominal pain, Villous atrophy,... OMIM:619381
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Inflammation of the large intestine, Esophageal varix OMIM:614576
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections OMIM:615758
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Severe varicella zoster infection, Defective T cell proliferation, Increased circulating IgG leve... OMIM:618213
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent a... ORPHA:29207
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, Vomiting, Pneumonia... ORPHA:544482
Sepsis In Premature Infants
Vomiting, Functional abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Abd... ORPHA:90051
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation ORPHA:66628
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:603909
Thymoma
Myositis, Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Glomerulonephritis, Ulcer... ORPHA:99867
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Feeding difficulties in infancy, Eryth... ORPHA:3260
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Abnormal intestine morphology, Infectious encephali... ORPHA:391487
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation ORPHA:179494
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Cocaine Intoxication
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, In... ORPHA:90068
Plague
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Vomiting, Endocard... ORPHA:707
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hepatocellular carcinoma, Protuberant abdomen, Gout, Hepatoc... ORPHA:79259
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Sclerosing c... ORPHA:562639
Syndromic Diarrhea
Bloody diarrhea, Villous atrophy, Intractable diarrhea, Hepatoblastoma, Gastritis, Dependency on ... ORPHA:84064
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Defective pr... OMIM:612132
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the tongue, Hepatocellular carcinoma, Glomerulonephritis, Hepatitis, Panniculitis, Ar... ORPHA:3261
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... ORPHA:171
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Abnormal lymphocyte physiology, Bone marrow hypocellularity, Impaired T cel... ORPHA:1830
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Orotic Aciduria
Impaired T cell function OMIM:258900
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Keratiti... ORPHA:906
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Nephritis, Fulminant hepatitis, Decreased liver... ORPHA:2442
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Bifid uvula, Gastro... OMIM:617137
Velocardiofacial Syndrome
Recurrent infections, Impaired T cell function OMIM:192430
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Bronchiectasis, Arthritis, Iridocyclitis, Uveitis, Increased... OMIM:181000
Immunodeficiency 87 And Autoimmunity
Cleft palate, Villous atrophy, Feeding difficulties, Increased fecal calprotectin level, Hepatic ... OMIM:619573
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... ORPHA:99413
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Mowat-Wilson Syndrome
Pyloric stenosis, Dysphagia, Aganglionic megacolon, Cleft palate, Vomiting, Gastrointestinal dysm... ORPHA:2152
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Digeorge Syndrome
Recurrent infections, Impaired T cell function OMIM:188400
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567

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 Tlr9

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 Tlr9.

No publications found that use IMPC mice or data for Tlr9.

Order Mouse and ES Cells

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