Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NLR family, CARD domain containing 4
Synonyms:
Card12,  9530011P19Rik,  Ipaf

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nlrc4 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 Nlrc4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoinflammation With Infantile Enterocolitis
Meningitis, Reduced natural killer cell activity OMIM:616050
Familial Cold Autoinflammatory Syndrome 4
OMIM:616115

The table below shows human diseases predicted to be associated to Nlrc4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent pneumonia, Decreased circulat... OMIM:613500
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Chronic decreased circulating total IgG, Recurrent sinusitis, Reduced iso... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati... OMIM:613502
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio... OMIM:613501
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni... OMIM:612692
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Decreased circulating antibody level, Recurrent fungal infections, Re... OMIM:616873
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Recurrent otitis media, Post-vaccination polio OMIM:616941
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis... OMIM:620449
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever... ORPHA:319552
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Recurrent bacterial infect... OMIM:193670
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent urinary tract i... OMIM:209920
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased circulating IgG level, Recurrent viral infections, Recurrent ... ORPHA:275
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Increased... ORPHA:98813
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent bronchitis, Impaired T cell function, Decreased circulating IgG... OMIM:607594
Immunodeficiency 110 With Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Persistent EBV viremia, Chronic mucocutaneo... OMIM:614868
Adult Idiopathic Neutropenia
Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Recurrent f... ORPHA:2688
Specific Granule Deficiency 1
Recurrent otitis media, Recurrent pneumonia, Impaired neutrophil bactericidal activity, Impaired ... OMIM:245480
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased... OMIM:300291
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Increased circulating IgG level,... ORPHA:276
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Recurrent bacterial infections ORPHA:169079
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Immunodeficiency 115 With Autoinflammation
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Par... OMIM:620632
Immunodeficiency 10
Increased circulating IgG3 level, Sepsis, Recurrent otitis media, Recurrent infections, Recurrent... OMIM:612783
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Decreased cir... OMIM:601495
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Dysgammaglobulinemia, Pneumocystis carinii pneumonia, Sepsis, Decreased... OMIM:308230
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent candida infections, Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemi... ORPHA:572
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sepsis, Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level,... OMIM:243700
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233710
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent CMV viremia, Persistent EBV viremia, Dec... OMIM:616005
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Recurrent otitis media, Pulmonary tuberculosis, Recurrent lower respiratory tract infecti... ORPHA:183675
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased ci... ORPHA:331206
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233690
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Pyoderma, Panhypogammaglobulinemia, Recurrent urinary tract infections, M... OMIM:307200
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Onychomycosis, Decreased specific antibody response to vaccin... ORPHA:331235
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Immunodeficiency 12
Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Complete or near-com... OMIM:615468
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, Increased circulating IgA level, Recurrent viral infections, Abn... OMIM:618048
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin infections,... ORPHA:911
Combined Immunodeficiency Due To Crac Channel Dysfunction
Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infectio... ORPHA:169090
Leukocyte Adhesion Deficiency, Type I
Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal infections, Rec... OMIM:116920
Specific Granule Deficiency 2
Sepsis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media OMIM:617475
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Decreased specific anti-polysaccharide antibody level, Increased circul... OMIM:606367
Purine Nucleoside Phosphorylase Deficiency
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Impaired T cell... OMIM:613179
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent infection of the gastrointestinal... ORPHA:486
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev... OMIM:615816
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Sepsis, Abnormal circulating interleukin concentr... ORPHA:70578
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Recurrent bacterial infections OMIM:603585
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:306400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Increased circulating IgE level, Chronic mucocutaneous candidiasi... OMIM:102700
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Acute Lung Injury
Increased circulating interleukin 6 concentration, Sepsis, Abnormality of tumor necrosis factor s... ORPHA:178320
Pgm3-Cdg
Sepsis, Increased circulating IgG level, Recurrent infections, Increased circulating IgE level, I... ORPHA:443811
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent bacterial infections OMIM:612840
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Chronic oral candidiasis, Recurrent urinary tract infections, Re... ORPHA:221139
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Increased circulating IgE level, Increased circulating IgA level, Recurrent viral infections, Rec... OMIM:620565
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Chronic oral candidiasis, Recurrent otitis media, Recurrent bacteria... OMIM:608233
Omenn Syndrome
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:603554
Immunodeficiency 47
Decreased circulating total IgG, Recurrent infections, Chronic decreased circulating total IgG, D... OMIM:300972
Vici Syndrome
Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, Decreased ci... OMIM:242840
Postinfectious Vasculitis
Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i... ORPHA:48435
Hypocomplementemic Urticarial Vasculitis
Meningitis, Recurrent bacterial infections ORPHA:36412
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Recurrent infections, Abnormal platelet function, Recur... ORPHA:167
Whim Syndrome
Sepsis, Decreased circulating antibody level, Recurrent pneumonia, Recurrent upper respiratory tr... ORPHA:51636
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Patent Urachus
Recurrent urinary tract infections, Recurrent gram-negative bacterial infections ORPHA:431341
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections OMIM:617053
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level, Recurrent bacterial infections OMIM:248500
Chediak-Higashi Syndrome
Recurrent infections, Recurrent systemic pyogenic infections, Impaired neutrophil bactericidal ac... OMIM:214500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Neonatal sepsis, Recurrent lower respiratory tract infections, Recurrent urinary tract in... OMIM:612541
Chromomycosis
Recurrent bacterial infections ORPHA:182
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Sepsis, Recurrent tonsillitis, Impaired platelet aggregation, BCGosis, ... ORPHA:2968
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Cystic Fibrosis
Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus infections, Rec... ORPHA:586
Immunodeficiency 87 And Autoimmunity
Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Recurrent viral infections, Rec... OMIM:619573
Shwachman-Diamond Syndrome
Sepsis, Bone marrow hypocellularity, Recurrent viral infections, Impaired neutrophil chemotaxis, ... ORPHA:811
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Increased circulating IgE l... OMIM:147060
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Lysinuric Protein Intolerance
Decreased circulating antibody level, Increased circulating antibody level, Recurrent bacterial i... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Autoinflammation With Infantile Enterocolitis
Meningitis, Reduced natural killer cell activity OMIM:616050
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642
Familial Cold Autoinflammatory Syndrome 4
OMIM:616115

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 Nlrc4

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 Nlrc4.

No publications found that use IMPC mice or data for Nlrc4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nlrc4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele Mice, ES Cells
Nlrc4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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