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Gene: Inava MGI:1921579

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Gene Summary

Name:
innate immunity activator
Synonyms:
5730559C18Rik

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IMPC Data Collections

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.

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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 Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Lateral Orientation

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DSS Histology

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Anti-nuclear antibody assay

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6 Images

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X-ray

XRay Images Forepaw

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Ear epidermis immunophenotyping

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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
Ulcerative colitis, Crohn's disease 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 lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... OMIM:614372
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea OMIM:619398
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... OMIM:613953
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Entero... OMIM:612567
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Recurrent respiratory infections, I... OMIM:300635
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Immunodeficiency 37
Colitis, Recurrent infections, Infectious encephalitis OMIM:616098
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Disseminated molluscum contagiosum, Colonic eosinop... OMIM:617638
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis ORPHA:88643
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Recurrent viral infections, Eczematoid dermatitis, Intestinal lymphangiectasia, ... OMIM:620632
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Recur... OMIM:613502
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea, Recurrent bronchiolitis OMIM:619164
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Recurrent respiratory infections, Mucoid di... OMIM:615767
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... OMIM:605258
Immunodeficiency 61
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Radiation Proctitis
Hematochezia, Diarrhea, Sepsis, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstr... ORPHA:70475
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent bacterial infections, Recurrent... OMIM:613501
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic... ORPHA:911
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Secretory diarrhea, Increased circulating ferritin concentration, Villous atroph... OMIM:616050
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent aphthous stomatitis, Sk... ORPHA:275
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Chronic diarrhea, Recurrent gram... OMIM:116920
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent pneumonia, Recurrent sinusitis, Candida esophagiti... OMIM:619281
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Elevated circulating C-reactive protein concentration, Colitis, Sterile arthritis, Cys... OMIM:604416
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infe... ORPHA:572
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid dermatitis, Recur... ORPHA:83471
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Increased circulating... OMIM:613101
Secondary Short Bowel Syndrome
Vomiting, Diarrhea, Sepsis, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine mor... ORPHA:95427
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Recurrent viral infections, Sepsis, Se... OMIM:243700
Immunodeficiency 70
Celiac disease, Recurrent sinusitis, Achalasia, Colitis, Furuncle OMIM:618969
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... OMIM:609536
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Chronic sinusitis, R... OMIM:612692
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Gastritis, Perianal abscess, Recurrent ... OMIM:618108
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer... OMIM:614878
Immunodeficiency 112
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... OMIM:620449
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... ORPHA:183675
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Crohn's disease, Recurrent sinopulmonary infections, Colitis, Chronic diarrhea, U... OMIM:618394
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Recurrent bronchitis, Men... ORPHA:331235
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Conjunctivitis, Recu... OMIM:613493
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... OMIM:618131
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Diarrhea, Conjunctivitis, Recurrent otitis media, Recurrent bronchitis, Recu... OMIM:240500
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Recurrent upper res... ORPHA:436159
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Chro... OMIM:616433
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio... ORPHA:98813
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr... ORPHA:2688
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Duodenal atresia, Intestinal malrotation, Psoriasif... OMIM:243150
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Sepsis, ... OMIM:614700
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent... OMIM:607594
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Diarrhea, Recurrent enteroviral infections, Septic arthritis, Conjunctivitis, Enterovi... OMIM:307200
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Recurrent viral infections, Eosinophilic infiltration... OMIM:620532
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:616873
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... OMIM:601495
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Anal fissure, C... OMIM:618935
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... OMIM:616809
Cyclic Neutropenia
Sepsis, Recurrent tonsillitis, Opportunistic infection, Periodontitis, Otitis media, Peritonitis,... ORPHA:2686
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233710
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Immunodeficiency 12
Recurrent viral infections, Recurrent aphthous stomatitis, Skin rash, Recurrent bacterial infecti... OMIM:615468
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Diarrhea, Sepsis, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Skin ... ORPHA:276
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Diarrhea, Recurrent viral infections, Periodontitis, Recurrent aphthous stomatitis, Re... ORPHA:486
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233690
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, ... OMIM:610984
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Recurrent viral infections, Colonic eosinophilia, Membranous nephropathy, Eosi... OMIM:618999
Immunodeficiency 97 With Autoinflammation
Diarrhea, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis media, Incr... OMIM:619802
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phosph... OMIM:620565
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczematoid dermatitis OMIM:300299
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Blepharitis, Skin rash, C... OMIM:617718
Specific Granule Deficiency 1
Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent pneumonia, Recurrent bacterial ... OMIM:245480
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent viral infections, Eczematoid dermatitis, Villous atr... OMIM:606367
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Abnormal circulating protein concentration, Glomerulonephri... ORPHA:48435
Specific Granule Deficiency 2
Intractable diarrhea, Sepsis, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial in... OMIM:617475
Shigellosis
Pneumonia, Hepatic failure, Vomiting, Sepsis, Conjunctivitis, Uveitis, Ulcerative colitis, Acute ... ORPHA:810
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Bloody diarrhea, Protracted diarrhea, Intestinal obstruction, Constric... ORPHA:67
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung... ORPHA:169090
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Elevated circulat... OMIM:619381
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... ORPHA:73263
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections, Glomerulonephritis OMIM:613496
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Omenn Syndrome
Pneumonia, Diarrhea, Recurrent viral infections, Recurrent fungal infections, Erythroderma, Recur... OMIM:603554
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Esophagitis, Lactose intolerance, High palate, Rec... ORPHA:443811
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Inflammation of the large intestine, Elevated circulating creatine ki... OMIM:614576
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Neutrophilic infiltration of the skin, Skin rash, Elevated circulatin... OMIM:618048
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Decreased liver function, Increased circulating ferritin concentration, Skin ras... ORPHA:540
Sepsis In Premature Infants
Vomiting, Diarrhea, Invasive fungal infection, Decreased liver function, Functional abnormality o... ORPHA:90051
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Elevated... OMIM:615895
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Sclerosing cho... ORPHA:2137
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:306400
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis OMIM:620133
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent infections, Recurrent upper respiratory tract infections, Diarrhea, Inflammatory abnorm... ORPHA:391487
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent b... OMIM:616005
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Diarrhea, Sepsis, Hepatitis, Enteroviral encephalitis, Sclerosing... OMIM:308230
Immunodeficiency 23
Allergic rhinitis, Bronchiectasis, Chronic mucocutaneous candidiasis, Recurrent respiratory infec... OMIM:615816
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Conjunctivitis, Nausea and vomiting, Episcleritis, Skin rash, Inflammatory abnormality ... ORPHA:36412
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Immunodeficiency 10
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... OMIM:612783
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Pancolitis, Eosinophilic infiltration of the esophagus, Perianal abscess, Ca... OMIM:618213
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit... ORPHA:51636
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Bronch... ORPHA:60033
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Protracted diarrhea,... ORPHA:331206
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting, Elevated circulating creat... OMIM:201475
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Vomiting, Diarrhea, Bloody diarrhea, Rectal prolapse, Peritonitis, Pancreatitis, Abdominal pain, ... ORPHA:90038
Cystic Fibrosis
Gastroesophageal reflux, Bronchiectasis, Recurrent respiratory infections, Recurrent Burkholderia... ORPHA:586
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Recurrent viral infections, Secretory diarrhea, Sepsis, Feed... OMIM:619573
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Mirage Syndrome
Gastroesophageal reflux, Sepsis, Recurrent urinary tract infections, Aspiration pneumonia, Achala... OMIM:617053
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec... ORPHA:793
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Vomiting, Diarrhea, Secretory diarrhea, Severe viral infection, Bloody diarrhea, Brain... ORPHA:544482
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Abnormal sperm motility, Bronchiectasis, Recurrent otitis med... ORPHA:244
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections OMIM:612840
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis OMIM:301108
Immunodeficiency 67
Septic arthritis, Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infect... OMIM:607676
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium a... OMIM:614172
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent ur... OMIM:613179
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Osteomyelitis,... ORPHA:29207
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Diarrhea, Recurrent viral infections, Gastroesophageal reflux, Recurrent urinary tract infections... ORPHA:221139
Infantile Systemic Hyalinosis
Malabsorption, Recurrent bacterial infections, Abnormality of the gastrointestinal tract, Steator... ORPHA:2176
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Polymicrogyria, Absent uvula, Intestinal atresia, Rectovagin... OMIM:619708
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Diarrhea, Recurrent viral infections, Chronic mucocutaneous candi... OMIM:102700
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Recurrent upper respiratory tract infections, Recu... OMIM:301000
Shwachman-Diamond Syndrome
Pneumonia, Hypoamylasemia, Recurrent viral infections, Sepsis, Eczematoid dermatitis, Malnutritio... ORPHA:811
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Abdomina... ORPHA:309031
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Glomerulonephritis, Meningiti... ORPHA:2968
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Abnormality of the an... ORPHA:2908
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Recurrent bacterial... OMIM:232220
Vici Syndrome
Recurrent viral infections, Chronic mucocutaneous candidiasis, Gray matter heterotopia, Median cl... OMIM:242840
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Enterocolitis, Pancreatitis, ... ORPHA:79259
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Recurrent otitis media, Chronic oral... OMIM:608233
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Gastritis, Hepatoblastoma, Dependency on intravenous nutri... ORPHA:84064
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Otitis ... OMIM:612541
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase concentration, Nause... ORPHA:90068
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Neoplasm of the gastroint... ORPHA:99867
Chédiak-Higashi Syndrome
Recurrent streptococcal infections, Periodontitis, Recurrent respiratory infections, Decreased li... ORPHA:167
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Sepsis, Blepharitis, Eczematoid dermatitis, Ke... ORPHA:906
Primary Sclerosing Cholangitis
Hypoalbuminemia, Uveitis, Hepatitis, Acute hepatic failure, Abdominal pain, Chronic hepatic failu... ORPHA:171
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Vomiting, Abdominal distention, Eczematoid dermatitis, Mala... ORPHA:3260
Fumarase Deficiency
Hepatic failure, Polymicrogyria, High palate, Necrotizing enterocolitis, Lissencephaly OMIM:606812
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Bifid uvula OMIM:241410
Chromomycosis
Recurrent bacterial infections, Keratoconjunctivitis sicca, Keratitis ORPHA:182
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Glycogen Storage Disease Ic
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Gout, Chronic ... OMIM:232240
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Autoimmune Lymphoproliferative Syndrome
Uveitis, Hepatitis, Recurrent aphthous stomatitis, Gastritis, Neoplasm of the tongue, Glomerulone... ORPHA:3261
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Parotitis, Abdominal pain, Elevated circulating C-reactive protein c... OMIM:620376
Patent Urachus
Abdominal pain, Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Macroglossia OMIM:248500
Lysinuric Protein Intolerance
Hepatic failure, Vomiting, Diarrhea, Intraalveolar phospholipid accumulation, Increased circulati... ORPHA:470
Immunodeficiency 47
Exocrine pancreatic insufficiency, Recurrent infections, Chronic diarrhea, Recurrent bacterial in... OMIM:300972
Chediak-Higashi Syndrome
Recurrent infections, Recurrent systemic pyogenic infections, Periodontitis, Recurrent bacterial ... OMIM:214500
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... OMIM:617137
Sickle Cell Disease
Recurrent bacterial infections, Abdominal pain OMIM:603903
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Episcleritis, Scleritis, Agan... ORPHA:2273
Chronic Thromboembolic Pulmonary Hypertension
Elevated circulating C-reactive protein concentration, Osteomyelitis, Inflammation of the large i... ORPHA:70591
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Iridocyclitis, Arthritis, Anorexia, Abnormal salivary gland ... OMIM:181000
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99226
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Polymicrogyria, Recurrent otitis ... ORPHA:2152
Bardet-Biedl Syndrome
Inflammation of the large intestine, Otitis media, Aganglionic megacolon, Rhinitis, Abnormality o... ORPHA:110
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Fasciitis, Osteomyelitis, Septic arthritis, Recurrent Staphylococ... 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.

Order Mouse and ES Cells

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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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