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Gene: Tnfaip8 MGI:2147191

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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:
tumor necrosis factor, alpha-induced protein 8
Synonyms:
Tipe,  E130304C20Rik,  Nded,  Gg2-1,  Ssc-2,  Gm10539

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 Tnfaip8 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 Tnfaip8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Anemia, Elevated circulating C-reactive protein concentration, Ulc... OMIM:619398
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... OMIM:617006
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Fail... OMIM:615767
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr... OMIM:619802
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive helper T ce... OMIM:618969
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, Lymphadenopathy, B lymphocytop... OMIM:619164
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Elevated circulat... OMIM:604416
Immunodeficiency 53
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Skin rash, Impaired lymphocyte tr... OMIM:617585
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Increased circulating interf... ORPHA:540
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Anoperinea... OMIM:301074
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Increa... OMIM:616050
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Obesity ORPHA:88643
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ... ORPHA:436159
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Mhc Class Ii Deficiency 1
Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinem... OMIM:209920
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato... ORPHA:98813
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... ORPHA:26790
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti... OMIM:613502
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Volvulus, Abdominal distention, Malnutrition, Cholestasis,... ORPHA:95427
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Abnormal lymph no... ORPHA:911
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor ... ORPHA:158061
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cel... OMIM:613501
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... OMIM:614878
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Hepatic failure, Reduced natural killer cell coun... ORPHA:158057
Immunodeficiency 32B
Hypoalbuminemia, Pneumonia, Neutrophilia, Failure to thrive, Impaired oxidative burst, Abnormal c... OMIM:226990
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Diarrhea, Failure to thrive, Bloody diarrhea, Villous a... OMIM:614602
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal... OMIM:618935
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... OMIM:301220
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Immunodeficiency 46
Failure to thrive, Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropen... OMIM:616740
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... OMIM:618999
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Increased tota... ORPHA:2137
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Eosinophili... ORPHA:411696
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... OMIM:619381
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... OMIM:616100
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal obstructi... ORPHA:67
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 8 concen... OMIM:620514
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abnormal blood ion concentrati... ORPHA:810
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... OMIM:615214
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Splenom... OMIM:615947
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Jaundice... OMIM:603552
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Autoimmune thrombocytopenia, R... OMIM:301082
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... OMIM:614470
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Eczematoid dermatitis,... OMIM:618131
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... OMIM:620532
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Feeding difficulties in infancy... OMIM:618752
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Abdomina... OMIM:620376
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... OMIM:616809
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... OMIM:617718
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Hepatic failure, Abnormal T cell count, Aplasti... OMIM:308240
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased F... OMIM:304790
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Vomiting, Diarrhea, Microangiopathic hemolytic anemia, Bloody diarrhea, Elevated circulating crea... ORPHA:90038
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... OMIM:614576
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Esophagitis, Eosinophilic, 1
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia OMIM:613412
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Absence of lymph node germinal center, Decreased circulating IgA... OMIM:606843
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Failure to th... OMIM:615895
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Failure to thrive in infancy, Leukocytosis, Panniculitis, Skin rash, Increased proporti... OMIM:617099
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Increased circulating ferritin concentration, Hypopl... OMIM:619313
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... OMIM:618213
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Ane... ORPHA:54251
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Abnormal circulating chemokine co... ORPHA:544482
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Abnormal circ... ORPHA:79124
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Chronic constipation, Decreased body weigh... ORPHA:209964
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Decreased pr... ORPHA:169154
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
X-Linked Agammaglobulinemia
Weight loss, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media, Osteomyeli... ORPHA:47
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Syndromic Diarrhea
Abnormality of iron homeostasis, Intractable diarrhea, Small for gestational age, Hepatic fibrosi... ORPHA:84064
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Abnormal CD4:CD8 ratio, Protracted diarrhea, Pancytopenia, Decreased proportion of CD4-... ORPHA:572
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... ORPHA:99867
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos... ORPHA:2688
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Hepa... OMIM:201475
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Diarrhea, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Mirage Syndrome
Gastroesophageal reflux, Hyperkalemia, Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased b... OMIM:617053
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otitis media, Decreas... OMIM:601495
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Neutropenia, Abdominal pain, End... ORPHA:73263
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Failure to thrive, Hemophagocytosis, Acute hepatic failure, Hepatosplenomega... OMIM:619644
Castleman Disease
Decreased mean corpuscular volume, Nausea and vomiting, Follicular hyperplasia, Intestinal obstru... ORPHA:160
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Hyperbili... ORPHA:562639
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in... ORPHA:3260
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Recurrent otitis ... OMIM:301000
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa... OMIM:308230
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, El... ORPHA:85435
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Nausea and vomiting, Leukocytosis, Splenomegaly, Wei... ORPHA:3226
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis, Failure to thrive OMIM:301108
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight... ORPHA:171
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Failure to thrive, Intussusception, Duodenal adenocarcin... OMIM:174900
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Increased circulating interfe... ORPHA:542323
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, I... ORPHA:829
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase... ORPHA:85410
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest... ORPHA:92050
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Elevated circ... OMIM:619573
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen, Feeding difficulties ORPHA:89844
Hyper-Igd Syndrome
Neutrophilia, Diarrhea, Vomiting, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Spl... OMIM:260920
Familial Mediterranean Fever
Neutrophilia, Vomiting, Diarrhea, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, C... OMIM:249100
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Hepatomegaly, Ch... ORPHA:79259
Psoriasis 14, Pustular
Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Geographic tongu... OMIM:614204
Glycogen Storage Disease Ib
Inflammation of the large intestine, Hyperlipidemia, Gout, Hyperuricemia, Splenomegaly, Pancreati... OMIM:232220
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Weight loss, Acute myeloid leukemia, Neutrophilia, Hepatome... ORPHA:98849
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Hypocalcemia, Asplenia, Hypoplastic spleen OMIM:602361
Relapsing Fever
Vomiting, Diarrhea, Increased total bilirubin, Elevated circulating creatinine concentration, Leu... ORPHA:91547
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Hyperbilirubinemia, Cholecystitis, Increased seru... ORPHA:69665
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia OMIM:266265
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA... OMIM:275350
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Keratoconjunctivitis si... ORPHA:309031
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Failure to thrive in infancy, Osteomyelitis, Skin rash, Splenomegaly, Abscess, Pustule, Hepatomeg... OMIM:612852
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Mednik Syndrome
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis, Increa... OMIM:609313
Pneumocystosis
Interstitial pneumonitis, Increased circulating antibody level, Weight loss, Acute infectious pne... ORPHA:723
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia... OMIM:620481
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... ORPHA:906
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,... ORPHA:699
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Splenomegaly, Increased circulating antibody l... OMIM:181000
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Cryptogenic Organizing Pneumonia
Anorexia, Leukocytosis, Weight loss, Neutrophilia, Elevated circulating C-reactive protein concen... ORPHA:1302
Glycogen Storage Disease Ic
Inflammation of the large intestine, Cyclic neutropenia, Hyperlipidemia, Gout, Hyperuricemia, Chr... OMIM:232240
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec... ORPHA:793
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Anemia, Abnormality o... ORPHA:2908
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... OMIM:619708
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Polycythemia, Hyperbilirubinemia, H... OMIM:606812
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Acute Generalized Exanthematous Pustulosis
Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic de... ORPHA:293173
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase concentration, Nause... ORPHA:90068
Herpes Simplex Virus Encephalitis
Nausea and vomiting, Leukocytosis, Hyponatremia, Neutrophilia, Elevated circulating C-reactive pr... ORPHA:1930
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Chronic sinusitis, Hypoplastic spleen OMIM:620642
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol... ORPHA:90291
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Failure to thrive, Recurrent otitis media, Microcytic anemia, Leu... ORPHA:99843
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Leukocytosis, Acute infectious pneumonia, Neutrophilia, Elevated circulati... ORPHA:36238
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon, Portal hypertension, Hepatic failure OMIM:619431
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Constipation, Hepatomegaly, Abdominal pain ORPHA:163746
Yellow Fever
Diarrhea, Vomiting, Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperb... ORPHA:99829
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve... ORPHA:99826
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Blepharitis, Polycythemia, Obesity, Protrud... ORPHA:870
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Abnormality of the gastrointestinal trac... ORPHA:2241
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Increased HDL cholesterol concentration, Osteomyelitis, Obes... ORPHA:70591
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention, Patent ductus arter... OMIM:619351
Fg Syndrome Type 1
Gastroesophageal reflux, Abnormal large intestine morphology, Slender build, Anal atresia, Consti... ORPHA:93932
Crimean-Congo Hemorrhagic Fever
Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Anorexia, Hepat... ORPHA:99827
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Ulcerative colitis, Feeding difficulties in infancy, High p... OMIM:617137
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Patent ductus arteriosus OMIM:601186
Bardet-Biedl Syndrome
Hepatic fibrosis, Inflammation of the large intestine, Obesity, Hypertriglyceridemia, Otitis medi... ORPHA:110
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention OMIM:619362
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Failure to thrive, Pancreatic hypoplasia, Intestinal malrotation, ... OMIM:600001
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Hepatic fibrosis, Inflammation of the large intestine, Cholestatic liver dis... ORPHA:99413
Turner Syndrome
High, narrow palate, Hepatic fibrosis, Inflammation of the large intestine, Cholestatic liver dis... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Hepatic fibrosis, Inflammation of the large intestine, Cholestatic liver dis... ORPHA:99228
Monosomy X
High, narrow palate, Hepatic fibrosis, Inflammation of the large intestine, Cholestatic liver dis... ORPHA:99226
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Intestinal polyposis, Hashimoto thyroiditis, Cachexia, Narro... ORPHA:109
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Decreased... ORPHA:2152
Restrictive Dermopathy
Microcolon, Patent ductus arteriosus, Submucous cleft hard palate ORPHA:1662

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 Tnfaip8

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 Tnfaip8.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
TIPE3 is the transfer protein of lipid second messengers that promote cancer. Cancer cell (September 2014) Tnfaip8l3tm1a(KOMP)Mbp PMC4198483

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tnfaip8tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tnfaip8tm375050(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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