Gene Summary

Name:
innate immunity activator
Synonyms:
5730559C18Rik

IMPC Data Collections

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.

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

15 Images

Human diseases caused by Inava 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 Inava by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... OMIM:614372
Immunodeficiency 61
Recurrent bacterial infections, Recurrent otitis media, Arthritis, Malabsorption, Recurrent respi... OMIM:300310
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Ulcerative colitis OMIM:619398
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... OMIM:613953
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent infections, Recurrent aphthous stomatitis, Diarrhea, Recurren... OMIM:613960
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent respirato... OMIM:613501
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent otitis media, ... OMIM:612692
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Infectious encephalitis, Villous atrophy, Recurrent ... OMIM:209920
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, R... OMIM:613502
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent infections, Increas... OMIM:300635
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency 37
Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Recurrent bacterial infections, Pneumonia, Bronchiectasis, Recurrent otitis media, Cro... OMIM:601495
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Intestinal obstruction, Crohn's disease, Rec... OMIM:266600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... OMIM:608957
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent ba... OMIM:605258
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... OMIM:611521
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency, Common Variable, 11
Crohn's disease, Recurrent respiratory infections, Inflammation of the large intestine, Mucoid di... OMIM:615767
Immunodeficiency 76
Chronic diarrhea, Recurrent bronchiolitis, Colitis, Recurrent pneumonia OMIM:619164
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis, Rec... ORPHA:275
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent oppo... ORPHA:911
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Candida esophagitis, Chronic diarrhea, Recurrent pneumonia, ... OMIM:619281
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Diar... ORPHA:83471
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Elevated circulating C-reactive protein concentration, Acne, Arth... OMIM:604416
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Feeding difficulties in infancy, Villous atrophy, Increased circulating ferritin... OMIM:616050
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Bronchiectasis... OMIM:608184
Secondary Short Bowel Syndrome
Sepsis, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abd... ORPHA:95427
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Sinusitis, Recurrent bacterial infections, Rec... ORPHA:572
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent upper respiratory tract infections, Colit... OMIM:613101
Immunodeficiency 70
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis OMIM:618969
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:613493
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis OMIM:613779
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Sepsis, Recurrent herpes, Recurrent infections, Recurrent respiratory infections, Al... ORPHA:183675
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Chronic diarrhea, Crohn's disease, Colitis, U... OMIM:618394
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Dysphagia, Inflammation of the large intestine, Recurrent infections, Chronic gastritis, ... OMIM:608809
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Ileal ulcer, Skin rash, Anterior uveitis OMIM:616744
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal abscess, Skin rash, Recu... OMIM:618108
Selective Igm Deficiency
Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Fasciitis... ORPHA:331235
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Men... OMIM:240500
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... ORPHA:26790
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Pneumonia, Bronchiectasis, Recurrent bronchitis, Recurrent otitis... OMIM:607594
Immune Deficiency Disease
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis OMIM:242850
Immunodeficiency 58
Eczema, Dysphagia, Allergic rhinitis, Helicobacter pylori infection, Recurrent cutaneous abscess ... OMIM:618131
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent infections, Ulcerative colitis, Interstitial pneumonitis, Bronchiolitis OMIM:614878
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, Decreased prealbumin... ORPHA:37042
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Recurrent infections, Onychomycosis, Crohn's disease, Perianal abscess, An... OMIM:618935
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Recurren... OMIM:614700
Cyclic Neutropenia
Sinusitis, Sepsis, Peritonitis, Opportunistic infection, Recurrent tonsillitis, Periodontitis, Pe... ORPHA:2686
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233710
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Osteomyelitis, Periodontitis, Recurrent staphylococcal infections... OMIM:116920
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent ... ORPHA:276
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Dysphagia, Feeding difficulties in infancy, Allergic rhin... ORPHA:411696
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Omenn Syndrome
Recurrent bacterial infections, Hypoproteinemia, Erythroderma, Pneumonia, Recurrent fungal infect... OMIM:603554
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:306400
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Intractable diarrhea OMIM:609536
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, High palate, Recurrent sinopulmonary infections, Recurrent fungal infectio... OMIM:147060
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Pneumonia, Rec... ORPHA:486
Trichohepatoenteric Syndrome 2
Hepatitis, Colitis, Villous atrophy, Diarrhea OMIM:614602
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Recurrent viral infections, Colonic eosinophilia, Eosi... OMIM:618999
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Psoriasiform dermatitis, Eczema, Severe varicella zoster infectio... OMIM:606367
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Elevated circulating C-reactive ... ORPHA:48435
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... ORPHA:169090
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... ORPHA:324964
Shigellosis
Myocarditis, Sepsis, Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Anorexia, Vomiting, Pneum... ORPHA:810
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Ac... ORPHA:67
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent otitis media, Intractable diarrhea, Recurrent p... OMIM:617475
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Recurrent infections OMIM:617718
Immunodeficiency 36
Chronic diarrhea, Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis OMIM:616005
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Glomerulonephritis, Recurrent respiratory infections OMIM:613496
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Pgm3-Cdg
Lactose intolerance, Eczema, Sepsis, Chronic otitis media, Recurrent infections, Recurrent respir... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Inflammation of the large intestine, Esophageal varix, Elevated circu... OMIM:614576
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hepatitis, Recurrent infections, Gastritis, Crohn's disease, Diarrhea, Elevated c... OMIM:619381
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Brain abscess, Fasciitis, Hepatitis, Melena, Gastritis... ORPHA:73263
Familial Hemophagocytic Lymphohistiocytosis
Infectious encephalitis, Erythroderma, Decreased liver function, Increased circulating ferritin c... ORPHA:540
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Abnormal intestine morphology, Eczema, Villous atrophy, Inf... ORPHA:391487
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Vomiting, Functional abnormality of the ga... ORPHA:90051
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis OMIM:203300
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Malabsorp... ORPHA:793
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Recurrent pneumonia, Bronchiectasis OMIM:301220
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Nausea and vomiting, Episcleritis, Arthritis, Meningitis, Uveitis... ORPHA:36412
Whim Syndrome
Sinusitis, Sepsis, Recurrent bacterial infections, Abnormality of the small intestine, Pneumonia,... ORPHA:51636
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Stomatitis, Hepatitis, Recurrent lower respiratory tract ... OMIM:308230
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent bacterial infections, Recurrent opportunistic infections, Pneumonia, Recurre... OMIM:613179
Immunodeficiency 23
Eczema, High palate, Allergic rhinitis, Severe varicella zoster infection, Bronchiectasis, Chroni... OMIM:615816
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... ORPHA:3243
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Lymphadenitis, Recurrent fungal infections, Protracted diarrhea, ... ORPHA:331206
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... ORPHA:90038
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Elevated circulating creatine kinase concentration, Necrotizing enterocolitis, Gastroesophageal r... OMIM:201475
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections OMIM:612840
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Brain abscess, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, Vomi... ORPHA:544482
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Feeding difficulties, Malabsorption, Chronic diarrhea, Steatorrhe... ORPHA:2176
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Acute ... ORPHA:60033
Immunodeficiency 92
Cholangitis, Pneumonia, BCGosis, Recurrent oral herpes, Esophagitis, Osteomyelitis, Chronic diarr... OMIM:619652
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Severe varicella zoster infection, Eosinophilic infiltration of the esophagus, P... OMIM:618213
Primary Ciliary Dyskinesia
Bronchiectasis, Chronic otitis media, Chronic rhinitis, Recurrent sinopulmonary infections, Chron... ORPHA:244
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Recurrent staphylococcal infections, Conjunctiv... ORPHA:2968
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Chronic diarrhea, Achalasia, Recurrent urinary tract infe... OMIM:617053
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Cleft palate, Villous atrophy, Elevated circulating C-rea... OMIM:619573
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent u... ORPHA:29207
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Psoriasiform dermatitis, Recurrent aspiration pneumonia, Nasogast... ORPHA:221139
Vici Syndrome
Recurrent bacterial infections, Cleft palate, Recurrent fungal infections, Recurrent viral infect... OMIM:242840
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Steatorrhea, Exocrine pancreatic insuf... ORPHA:309031
Wiskott-Aldrich Syndrome
Sepsis, Eczema, Inflammation of the large intestine, Recurrent herpes, Recurrent otitis media, Me... OMIM:301000
Shwachman-Diamond Syndrome
Sinusitis, Sepsis, Eczema, Recurrent bacterial infections, Pneumonia, Hypoamylasemia, Recurrent v... ORPHA:811
Iga Pemphigus
Pustule, Ulcerative colitis, Cutaneous abscess, Neutrophilic infiltration of the skin ORPHA:555905
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... ORPHA:2908
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Recurrent lower respiratory tr... OMIM:600903
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, ... OMIM:608233
Syndromic Diarrhea
Bloody diarrhea, Villous atrophy, Recurrent infections, Hepatoblastoma, Intractable diarrhea, Gas... ORPHA:84064
Cocaine Intoxication
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, El... ORPHA:90068
Plague
Sepsis, Bloody diarrhea, Inflammation of the large intestine, Anorexia, Vomiting, Endocarditis, L... ORPHA:707
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Inflammation of the large intestine, Hepatocellular carcinoma, Pr... ORPHA:79259
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Thymoma
Myositis, Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Glomerulonephritis, Ulcer... ORPHA:99867
Ch├ędiak-Higashi Syndrome
Recurrent bacterial infections, Hypoproteinemia, Recurrent infections, Periodontitis, Increased c... ORPHA:167
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent bacterial infections, Pneumonia, Recurrent fungal infections, Recurrent vira... OMIM:102700
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Dysphagia, Feeding difficulties in inf... ORPHA:3260
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, High palate, Cleft palate, Recurrent respiratory infections OMIM:612541
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Nephritis, Fulminant hepatitis, Decreased liver... ORPHA:2442
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... ORPHA:171
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Bifid uvula OMIM:241410
Wiskott-Aldrich Syndrome
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, ... ORPHA:906
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Molluscum contagiosum, Severe cytomegalovirus infection OMIM:300291
Chromomycosis
Keratoconjunctivitis sicca, Recurrent bacterial infections, Keratitis ORPHA:182
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Sclerosing c... ORPHA:562639
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the tongue, Hepatocellular carcinoma, Glomerulonephritis, Hepatitis, Panniculitis, Ar... ORPHA:3261
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hepatocellular carcinoma, Protuberant abdomen, Gout, Pancreatitis OMIM:232220
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Recurrent bacterial infections OMIM:248500
Lysinuric Protein Intolerance
Recurrent bacterial infections, Tubulointerstitial nephritis, Vomiting, Membranous nephropathy, F... ORPHA:470
Chediak-Higashi Syndrome
Periodontitis, Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyog... OMIM:214500
Sickle Cell Anemia
Recurrent bacterial infections, Abdominal pain OMIM:603903
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Bifid uvula, Gastro... OMIM:617137
Immunodeficiency 47
Chronic diarrhea, Exocrine pancreatic insufficiency, Recurrent bacterial infections, Recurrent in... OMIM:300972
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Eczema, Aganglionic megacolon, Episcleritis, Cheilitis, Feeding d... ORPHA:2273
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Elevated circulating C-reactive protein concentration, Osteo... ORPHA:70591
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Bronchiectasis... OMIM:181000
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Turner Syndrome
High, narrow palate, High palate, Inflammation of the large intestine, Celiac disease, Recurrent ... ORPHA:881
Mosaic Monosomy X
High, narrow palate, High palate, Inflammation of the large intestine, Celiac disease, Recurrent ... ORPHA:99228
Monosomy X
High, narrow palate, High palate, Inflammation of the large intestine, Celiac disease, Recurrent ... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, High palate, Inflammation of the large intestine, Celiac disease, Recurrent ... ORPHA:99413
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Mowat-Wilson Syndrome
Pyloric stenosis, Dysphagia, Aganglionic megacolon, Cleft palate, Vomiting, Periventricular heter... ORPHA:2152
Hereditary Sensory And Autonomic Neuropathy Type 4
Dysphagia, Recurrent aspiration pneumonia, Feeding difficulties, Fasciitis, Septic arthritis, Ost... ORPHA:642

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Inava

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 Inava.

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

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MGI Allele Allele Type Produced
Inavatm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Inavatm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Inavatm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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