Gene Summary

Name:
caspase recruitment domain family, member 9
Synonyms:
LOC332579

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Forepaw

14 Images

Anti-nuclear antibody assay

Images

6 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 100 images

Human diseases caused by Card9 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 Card9 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Chronic tinea infection, Meningitis, Onychomycosi... OMIM:212050

The table below shows human diseases predicted to be associated to Card9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... OMIM:614372
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... OMIM:605258
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Impaired Ig class switch recombination, R... OMIM:608106
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Recurrent bacterial infections... OMIM:606843
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 61
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG2 lev... OMIM:300310
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Tegumentary leishmaniasis susceptibility,... ORPHA:319552
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... OMIM:613501
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:613502
Immunodeficiency 33
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... OMIM:300636
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Immunodeficiency 110 With Lymphoproliferation
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumoni... OMIM:612692
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Recurrent infections, Decreased circulating IgG level OMIM:146830
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent upper respiratory... OMIM:193670
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media OMIM:616941
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Infectious encephalitis, Recurrent urinary tract infections, Chronic mu... OMIM:209920
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis medi... OMIM:607594
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level ORPHA:169079
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Recurrent bacterial infections, Recurrent upper respirato... OMIM:608184
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Adult Acute Respiratory Distress Syndrome
Sepsis, Abnormal circulating interleukin concentration, Increased circulating interleukin 6 conce... ORPHA:70578
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Disseminated molluscum contagiosum, Recurrent sinusitis, Recurre... OMIM:243700
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... OMIM:607676
Acute Lung Injury
Sepsis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor s... ORPHA:178320
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... ORPHA:276
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... OMIM:300291
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Increased ci... ORPHA:2688
Immunodeficiency 84
Persistent EBV viremia, Recurrent bacterial infections OMIM:619437
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, Lack of T cell function, Recurrent Staphylococcus aureus infections, De... ORPHA:572
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Decreased T cell activation, Recurrent lower respiratory tract infectio... OMIM:308230
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Recurrent respiratory infections, Decreased circulating antibody level,... OMIM:601495
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia OMIM:619693
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... OMIM:147060
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Recurrent bacterial infections, Recurrent upper respiratory tract infecti... OMIM:616005
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Increased circulating IgA level, Recurrent viral infections, Incr... OMIM:618048
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Increased circulating interleukin 6 concentration, Abnormality of chemokine secret... ORPHA:544482
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Reduced antigen-specific T... ORPHA:331206
Thymic Aplasia
Invasive fungal infection, Opportunistic infection, Severe infection, Recurrent Staphylococcus au... ORPHA:83471
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome, Recurrent urinary tract infection... OMIM:307200
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent shingles, Decreased circulating IgG level, Decreased circulating total IgM, Severe infe... ORPHA:183675
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Recurrent staphylococcal infections, Men... ORPHA:331235
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233710
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent respiratory infections, Chronic oral candidiasis, Re... OMIM:606367
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233690
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... OMIM:116920
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... ORPHA:911
Sweet Syndrome
Recurrent infections, Abnormal circulating interleukin concentration, Increased circulating inter... ORPHA:3243
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... OMIM:610984
Immunodeficiency 23
Persistent EBV viremia, Severe varicella zoster infection, Recurrent Staphylococcus aureus infect... OMIM:615816
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infections, Meningitis, Recurrent... ORPHA:169090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgG2 level, Absent specific antibody respo... OMIM:102700
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Sepsis OMIM:617475
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Abnormality of B cell phy... OMIM:613179
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Decreased circulating total IgM, Chronic oral candidiasis, Decreased ci... ORPHA:221139
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Pgm3-Cdg
Recurrent fungal infections, Reduced antigen-specific T cell proliferation, Increased circulating... ORPHA:443811
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, Rec... ORPHA:486
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... ORPHA:542323
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:306400
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Chronic tinea infection, Meningitis, Onychomycosi... OMIM:212050
Immunodeficiency 47
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating a... OMIM:300972
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Whim Syndrome
Decreased circulating antibody level, Recurrent pneumonia, Recurrent bacterial infections, Recurr... ORPHA:51636
Omenn Syndrome
Recurrent bacterial infections, Recurrent viral infections, Hypoproteinemia, Recurrent fungal inf... OMIM:603554
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Immunodeficiency 21
Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterium avium complex in... OMIM:614172
Postinfectious Vasculitis
Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... ORPHA:48435
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG2 level, Chronic mucocutaneous candidiasis,... OMIM:242840
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Reduced natural killer cell activity, Impaired ADP-induced platelet agg... OMIM:608233
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines, Recurrent in... OMIM:612132
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Abnormal platelet function, Recurrent staphylococcal infecti... ORPHA:167
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Recurrent infections... OMIM:214500
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Impair... ORPHA:2968
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections OMIM:617053
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respiratory t... OMIM:612541
Chromomycosis
Recurrent bacterial infections ORPHA:182
Shwachman-Diamond Syndrome
Hypoamylasemia, Impaired neutrophil chemotaxis, Recurrent bacterial infections, Bone marrow hypoc... ORPHA:811
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Recurrent sinopulmonary infections, Recurrent otitis media ORPHA:244
Immunodeficiency 87 And Autoimmunity
Persistent EBV viremia, Sepsis, Recurrent bacterial infections, Elevated circulating C-reactive p... OMIM:619573
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Lysinuric Protein Intolerance
Increased circulating antibody level, Recurrent bacterial infections, Decreased circulating antib... ORPHA:470
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Polyclonal elevation of IgM ORPHA:171
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Cystic Fibrosis
Recurrent Haemophilus influenzae infections, Recurrent Staphylococcus aureus infections, Recurren... ORPHA:586
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
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 bacterial infections, Recurrent respiratory infections, Recurrent infections ORPHA:2273
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections 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 Card9

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 Card9.