Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
single immunoglobulin and toll-interleukin 1 receptor (TIR) domain
Synonyms:
Sigirr,  Tir8

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 Sigirr 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 Sigirr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 37
Decreased circulating antibody level, Encephalitis, Colitis OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level OMIM:617006
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Increased circulating IgE level, Mucoid diarrhea, Decreased ... OMIM:615767
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent sinusitis, Colitis, Decreased ci... OMIM:619281
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Immunodeficiency 70
Decreased circulating antibody level, Furuncle, Recurrent sinusitis, Achalasia, Colitis, Decrease... OMIM:618969
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Acne, Decreased circulating antibody level, Co... OMIM:300635
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Immunodeficiency 60
Bronchiectasis, Decreased circulating IgE, Chronic diarrhea, Ulcerative colitis, Colitis, Decreas... OMIM:618394
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Skin rash, Inflammation of the ... OMIM:618108
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent sinusiti... OMIM:613101
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Dec... OMIM:608809
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Villous atrophy, Panhypogammaglobulinemia, Colitis, Protracted... OMIM:209920
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Abdominal cramps, Gastrointestinal infarctions, Abdominal ... ORPHA:544482
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Esophageal stenosis, Colitis OMIM:615190
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia... OMIM:614878
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Increased serum interferon-gamma level, Decreased circulating antibody level, Erythrod... ORPHA:540
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Allergic rhinitis, Atopic derm... ORPHA:411696
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Helicob... OMIM:618131
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Decreased specific antibody response to vacc... OMIM:614700
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Increased circulating antibody level, Rheumatoid ar... ORPHA:48104
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Sterile arthritis, Acne, Arthritis OMIM:604416
Immunodeficiency 76
Colitis, Chronic diarrhea, Recurrent pneumonia OMIM:619164
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Nausea and vomiting, Intestina... ORPHA:26790
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Colitis, Increased circulating interleukin 8, Recurrent pneumon... OMIM:301220
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Gastrointestinal hemorrhage, Abdominal pain... ORPHA:2137
Autoinflammation With Infantile Enterocolitis
Skin rash, Reduced natural killer cell activity, Villous atrophy, Episodic vomiting, Feeding diff... OMIM:616050
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Increased serum interferon-gamma level, Abnormality of interleukin secretion, Increase... ORPHA:542323
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Hepatitis, Colitis OMIM:614602
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Panniculitis, Abn... ORPHA:3243
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Impaired oxidative burst, Ulcerative colitis, Acute pancreatitis, Perianal abscess... OMIM:618935
Shigellosis
Peritonitis, Paralytic ileus, Acute colitis, Intestinal perforation, Tenesmus, Abdominal cramps, ... ORPHA:810
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Chronic oral candidiasis, Lymphadenitis, Recurrent bacterial skin infections, Chronic ... ORPHA:911
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:600903
Cyclic Neutropenia
Peritonitis, Abdominal pain, Periodontitis, Perianal abscess, Sinusitis, Recurrent skin infection... ORPHA:2686
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Colitis, Hematochezia, Abdominal pain OMIM:203300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Psoriasiform derma... ORPHA:324964
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Chron... OMIM:614576
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Anoperineal fistula, Eosinophili... OMIM:618213
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,... ORPHA:793
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Psoriasiform dermatitis, Oligoarthritis,... OMIM:106300
Sepsis In Premature Infants
Gastrointestinal dysmotility, Increased circulating interleukin 6, Functional abnormality of the ... ORPHA:90051
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Abdominal pain, Protracted diarrhea, Diarrhea, Intestin... ORPHA:67
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, Myocarditis, Endocardi... ORPHA:73263
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Esophageal carcinoma, Thyroiditis, Villous atrophy, Hepatitis, Diarrhea, Encephal... ORPHA:391487
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Increased proportion of CD25+ mast cells, Increased circulat... ORPHA:2442
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Increased circulating IgM level, Interface hepatitis, Granul... ORPHA:562639
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Colonic eosinophilia, Atopic dermatitis, Membranous nephropathy OMIM:618999
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Intestinal perforation, Abdominal pain, Intussusception, Colonic sten... ORPHA:90038
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent pneumonia, Increased circulating IgE level, Decrea... OMIM:301000
Syndromic Diarrhea
Villous atrophy, Panhypogammaglobulinemia, Colitis, Gastritis, Intractable diarrhea, Dependency o... ORPHA:84064
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Dysphagia, Periodontitis, Cheilitis, Esophageal... ORPHA:2908
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting OMIM:201475
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Abdominal pain, Steatorrhea, Colitis, Keratoconjunctivitis sic... ORPHA:309031
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Abdominal pain, Thyroiditis, Hepatocellular carcinoma, Acute hepatic... ORPHA:171
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Abdominal pain, Erythroderma, Dysphagia, Chronic diarrhea, ... ORPHA:3260
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Abdominal pain, Conjunctivitis, Diarr... ORPHA:29207
Cocaine Intoxication
Intestinal perforation, Abdominal pain, Gastrointestinal infarctions, Nausea, Colitis, Glomerulon... ORPHA:90068
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine OMIM:617718
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Glossitis, Endocarditis, Hematemesis... ORPHA:707
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Protuberant abdomen, Thyroiditis, Hepatocellular carcinoma, ... ORPHA:79259
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Iridocyclitis, Bronchiecta... OMIM:181000
Parenteral Nutrition-Associated Cholestasis
Hepatic failure, Villous atrophy, Abnormality of cytokine secretion, Abdominal pain ORPHA:567983
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Hematemesis, Hematochezia, Chronic diarrhea, Chronic otitis ... ORPHA:906
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, Ulcerative colitis, Cleft palate, Bifid uvula, High palate, Feeding diff... OMIM:617137
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:99226
Mowat-Wilson Syndrome
Dysphagia, Decreased circulating antibody level, Constipation, Aganglionic megacolon, Recurrent o... ORPHA:2152
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591

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 Sigirr

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 Sigirr.

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

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MGI Allele Allele Type Produced
Sigirrtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Sigirrtm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Sigirrtm441104(L1L2_Bact_P) Targeting vectors

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