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
Reduced natural killer cell activity, Meningitis 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
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency 34
Severe recurrent varicella, 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, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent candida 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 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Frequent Giardia lamb... OMIM:300310
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... OMIM:606843
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level,... OMIM:300636
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:612692
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Recurrent infections, Agammaglobulinemia OMIM:616941
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Disseminated nontuberculous mycobacterial infection, Recurrent mycobacterial infections, Recurren... ORPHA:319552
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections, Increased circulating Ig... OMIM:607676
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic lymphocytic men... OMIM:209920
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:607594
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent viral infections, Recurrent mycobacterial infections, ... ORPHA:275
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections ORPHA:169079
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Severe cytomegalovirus inf... OMIM:300291
Adult Idiopathic Neutropenia
Recurrent infections, Helicobacter pylori infection, Increased circulating IgM level, Recurrent b... ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Increased circulating IgG... ORPHA:276
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:601495
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Recurrent viral infections, Lack of T cell function, ... ORPHA:572
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, Severe infection, Chronic oral ... ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia OMIM:619693
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections, Decreased circulating antibody ... OMIM:616005
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent upper res... ORPHA:183675
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent fungal infections, Rec... OMIM:147060
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233710
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Infectious encephalitis, Recurrent bacterial infections, Meningitis, Ente... OMIM:307200
Selective Igm Deficiency
Severe infection, Recurrent urinary tract infections, Recurrent herpes, Recurrent pneumonia, Recu... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233690
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningitis, Recurrent Haemophilus influenzae infections, Recurr... OMIM:610984
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, R... ORPHA:911
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, M... ORPHA:169090
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Abnormality of B cell p... OMIM:613179
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating IgA level, Seve... OMIM:606367
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent gram-negative bact... OMIM:116920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Recurrent pneumonia, Recurrent viral infections, Recurrent bacte... OMIM:102700
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent bacterial infections, Recurrent i... ORPHA:486
Omenn Syndrome
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:603554
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Recurrent viral infections, Recurre... OMIM:242840
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:306400
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Increased circulating IgG level, Increased circulatin... OMIM:615816
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... ORPHA:178320
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Recurrent ear infections, Recurrent viral infections, Decreased ... ORPHA:221139
Pgm3-Cdg
Reduced antigen-specific T cell proliferation, Recurrent pneumonia, Recurrent infections, Increas... ORPHA:443811
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Impaired ADP-induced pl... OMIM:608233
Ch├ędiak-Higashi Syndrome
Recurrent infections, Abnormal platelet function, Recurrent streptococcal infections, Recurrent b... ORPHA:167
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Severe Epstein Barr virus infection, Recurrent mycoba... ORPHA:48435
Whim Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent bacterial infections... ORPHA:51636
Immunodeficiency 47
Decreased circulating total IgM, Recurrent infections, Chronic decreased circulating total IgG, D... OMIM:300972
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Sepsis OMIM:612541
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent respiratory infections, Recurrent in... OMIM:612132
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Impaired platelet aggregation, Impaired neutrophil chemotaxis, Recur... ORPHA:2968
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Impaired neutrophil bactericidal activity, Recurrent infecti... OMIM:214500
Mirage Syndrome
Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis OMIM:617053
Chromomycosis
Recurrent bacterial infections ORPHA:182
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections ORPHA:244
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Shwachman-Diamond Syndrome
Impaired neutrophil chemotaxis, Bone marrow hypocellularity, Recurrent viral infections, Recurren... ORPHA:811
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Severe cytomegalovirus infection, Recurrent bacterial infections, Rec... OMIM:619573
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Lysinuric Protein Intolerance
Increased circulating antibody level, Recurrent bacterial infections, Decreased circulating antib... ORPHA:470
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent infections, Recurrent bacterial infections ORPHA:2273
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Meningitis 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.

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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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