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Gene: Traf5 MGI:107548

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

TNF receptor-associated factor 5

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 Traf5 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.

Human diseases associated with Traf5 (0 diseases)
Human diseases predicted to be associated with Traf5 (321 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Traf5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:613502
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:613500
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk...	OMIM:618944
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Immunodeficiency 62	Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,...	OMIM:618459
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea...	OMIM:300400
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:612692
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:618969
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Agammaglobulinemia 8B, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o...	OMIM:619824
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619281
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre...	OMIM:607594
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le...	ORPHA:98813
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:619510
Immunodeficiency 48	Panhypogammaglobulinemia	OMIM:269840
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent isohemagglutinin level	OMIM:613501
Immunodeficiency 109 With Lymphoproliferation	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near...	OMIM:620282
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function	OMIM:267500
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy	OMIM:183350
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level	OMIM:617006
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level	OMIM:619846
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Rosaï-Dorfman Disease	Dysgammaglobulinemia	ORPHA:158014
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T...	ORPHA:331206
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:615758
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity	OMIM:614493
Immunodeficiency 46	Decreased circulating antibody level	OMIM:616740
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:240500
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:618534
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Ataxia-Pancytopenia Syndrome	Abnormal platelet function, Decreased circulating antibody level	ORPHA:2585
Cernunnos-Xlf Deficiency	Decreased circulating antibody level	ORPHA:169079
Alpha-Heavy Chain Disease	Dysgammaglobulinemia	ORPHA:100025
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Immunodeficiency 52	Decreased circulating antibody level	OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal natural killer cell physiology, Decreased circulating antibody level	OMIM:613101
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619802
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620040
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph...	ORPHA:35078
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6...	OMIM:300853
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia	OMIM:601457
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia	OMIM:619693
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,...	OMIM:308240
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula...	OMIM:300755
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level	OMIM:616576
Reticular Dysgenesis	Decreased circulating antibody level	ORPHA:33355
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,...	ORPHA:221139
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Decreased circulating antibody level	ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level	OMIM:300635
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Increased circulating IgE level, Decreased circulating total I...	OMIM:102700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:619767
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level	OMIM:618048
Immunodeficiency 47	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:300972
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function	ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ...	ORPHA:169160
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant...	OMIM:600802
Maternal Uniparental Disomy Of Chromosome 1	Panhypogammaglobulinemia	ORPHA:251009
Immunodeficiency 92	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level...	OMIM:619652
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Selective Igm Deficiency	Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina...	ORPHA:331235
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:616005
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:210900
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level	OMIM:615122
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal...	ORPHA:183675
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Secondary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve...	ORPHA:90363
Roifman Syndrome	Decreased T cell activation, Decreased circulating antibody level	ORPHA:353298
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Decreased circulating antibody level	OMIM:617780
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota...	ORPHA:508533
Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia, Decreased circulating antibody level	OMIM:601495
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Ataxia-Telangiectasia	Decreased circulating antibody level	ORPHA:100
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac...	ORPHA:3261
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:275
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Wiskott-Aldrich Syndrome	Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ...	OMIM:301000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level	OMIM:618495
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:125
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Autoimmune Lymphoproliferative Syndrome, Type Iii	Reduced natural killer cell activity, Absent isohemagglutinin level, Decreased circulating comple...	OMIM:615559
Immunodeficiency 12	Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to...	OMIM:615468
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:613011
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased circulating antibody level, Abnormality of humoral immunity, D...	ORPHA:572
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Decreased circulating antibody level	OMIM:619750
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio...	ORPHA:276
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:169154
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620005
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Hereditary Folate Malabsorption	Decreased circulating antibody level	ORPHA:90045
Griscelli Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level	ORPHA:381
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Increased circulating IgA level	OMIM:617099
Icf Syndrome	Decreased circulating antibody level	ORPHA:2268
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Increase...	ORPHA:540
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Decreased circulating antibody level	OMIM:615952
Autosomal Agammaglobulinemia	Agammaglobulinemia	ORPHA:33110
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part...	OMIM:618986
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Increased ...	ORPHA:91139
Macrocephaly/Autism Syndrome	Decreased circulating antibody level	OMIM:605309
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Decreased...	OMIM:606367
Thymoma	Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Decreased circulating antibody...	ORPHA:99867
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
X-Linked Agammaglobulinemia	Agammaglobulinemia	ORPHA:47
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Decreased circulating antibody level	OMIM:226300
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:619381
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity	OMIM:301078
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level	OMIM:615816
Good Syndrome	Decreased circulating antibody level	ORPHA:169105
Immunodeficiency 58	Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu...	OMIM:618131
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Agammaglobulinemia, Decreased circulating antibody level	OMIM:243150
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function	OMIM:614576
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level	OMIM:617425
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Decreased circulating antibody level	OMIM:616084
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	ORPHA:935
Schimke Immunoosseous Dysplasia	Abnormal immunoglobulin level, Decreased circulating antibody level	OMIM:242900
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc...	OMIM:618213
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Mgat2-Cdg	Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio...	ORPHA:79329
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Mannosidosis, Alpha B, Lysosomal	Decreased circulating antibody level	OMIM:248500
Mucopolysaccharidosis-Plus Syndrome	Increased circulating IgM level, Bone marrow hypocellularity	OMIM:617303
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Panhypogammaglobulinemia	OMIM:307200
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449432
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati...	ORPHA:79124
Cowden Syndrome 1	Decreased circulating antibody level	OMIM:158350
Orotic Aciduria	Impaired T cell function	OMIM:258900
Ataxia-Telangiectasia	Decreased circulating IgG2 level, Decreased circulating IgG level, Defective B cell differentiati...	OMIM:208900
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level	OMIM:613385
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Primary Biliary Cholangitis	Increased circulating IgM level, Increased circulating IgA level	ORPHA:186
Common Variable Immunodeficiency	Decreased circulating antibody level	ORPHA:1572
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level	OMIM:212750
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level	OMIM:613327
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity	ORPHA:505248
Vici Syndrome	Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ...	OMIM:242840
Tick-Borne Encephalitis	Increased circulating IgG level, Increased circulating IgM level, Abnormality of serum cytokine l...	ORPHA:297
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Decreased circulating antibody level	ORPHA:79396
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating antibody level	ORPHA:293978
Whim Syndrome	Decreased circulating antibody level	ORPHA:51636
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level	ORPHA:79078
Autoimmune Polyendocrinopathy Type 4	Decreased circulating antibody level	ORPHA:227990
Trichohepatoenteric Syndrome 1	Decreased circulating antibody level	OMIM:222470
Autoimmune Polyendocrinopathy Type 3	Decreased circulating antibody level	ORPHA:227982
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615688
Cartilage-Hair Hypoplasia	Decreased circulating antibody level	ORPHA:175
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:223370
Trichothiodystrophy	Panhypogammaglobulinemia	ORPHA:33364
Nijmegen Breakage Syndrome	Dysgammaglobulinemia	OMIM:251260
Primary Sjögren Syndrome	Decreased circulating antibody level, Decreased circulating complement C3 concentration, Increase...	ORPHA:289390
Hennekam Syndrome	Decreased circulating antibody level	ORPHA:2136
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased circulating antibody level	ORPHA:247598
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Lysinuric Protein Intolerance	Complement deficiency, Abnormality of humoral immunity, Increased circulating antibody level, Dec...	ORPHA:470
Syndromic Diarrhea	Panhypogammaglobulinemia	ORPHA:84064
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level	OMIM:618278
Thrombocytopenia-Absent Radius Syndrome	Decreased circulating antibody level	OMIM:274000
Leukocyte Adhesion Deficiency Type Ii	Abnormal isohemagglutinin level	ORPHA:99843
Brucellosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:1304
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM	ORPHA:171
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration	ORPHA:99829
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:99827
Sponastrime Dysplasia	Decreased circulating antibody level	ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level	OMIM:619472
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Decreased circulating antibody level	ORPHA:261552

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 Traf5

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 Traf5.

No publications found that use IMPC mice or data for Traf5.

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.

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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