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Gene: Otud7b MGI:2654703

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Gene Summary

Name:
OTU domain containing 7B
Synonyms:
4930463P07Rik,  Za20d1,  2900060B22Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Otud7btm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Legacy Phenotype Associated Images
Otud7btm1b(EUCOMM)Wtsi
HET, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
HET, Male, WTSI
Otud7btm1b(EUCOMM)Wtsi
HET, Male, WTSI

View all 133 images

Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
WT, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
abnormal digit morphology, HET, Male, WTSI
Otud7btm1b(EUCOMM)Wtsi
head, WT, Female, WTSI

View all 10 images

Otud7btm1b(EUCOMM)Wtsi
persistence of hyaloid vascular system, HET, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
abnormal cornea morphology, HET, Male, WTSI
Otud7btm1b(EUCOMM)Wtsi
fused cornea and lens, HET, Female, WTSI
Otud7btm1b(EUCOMM)Wtsi
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by Otud7b 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.

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

The table below shows human diseases predicted to be associated to Otud7b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... ORPHA:169154
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Lymphadenopathy, Decreased circu... OMIM:608106
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Recurrent otitis... OMIM:618982
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM OMIM:300636
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Caspase 8 Deficiency
Recurrent herpes, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG lev... OMIM:607271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... OMIM:618987
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Failure to... OMIM:613501
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Abnormal lymphocyte morpholo... OMIM:609529
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Failure to thrive, Recurrent otitis media, Splenomegaly, Recurrent urinary tract... OMIM:618495
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Recurrent infections, Splenomegaly, Increased... OMIM:615285
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... OMIM:615559
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... OMIM:137100
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Agammaglobulinemia, Recurrent p... OMIM:613500
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Recurrent respiratory infections, Decreased circulating antibody level, Recurr... OMIM:617744
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Recurrent opportunistic infections, Failure to thrive... ORPHA:277
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level OMIM:615206
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... OMIM:300988
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Recurrent candida infections, Splenomegaly OMIM:269840
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Increased circulating interleukin 6, Decre... OMIM:618944
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Lympha... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... ORPHA:169160
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infections, Splenom... OMIM:614470
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Failure to thrive, Decreased circulating I... OMIM:615767
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Onychomycosis, Increased circulating IgE level, Hypere... OMIM:212050
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Obesity, Recurrent re... OMIM:300310
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Failure to thrive, Recurrent infections, Increased circulating antibody level, T... OMIM:618048
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... OMIM:613502
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Decreased circulating IgA level, Decreased circulating IgG level, R... OMIM:619510
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Failure to ... OMIM:308230
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Recurrent infections, Reduced natural kill... OMIM:618261
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Failure to th... OMIM:601495
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Failure to thrive, Recurrent otitis media, Recurrent... OMIM:616022
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Failure to thrive, Paratracheal lymp... OMIM:615934
Mu-Heavy Chain Disease
Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increased circulating ... ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Failure to th... OMIM:102700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Decrea... OMIM:616100
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Recurrent uppe... ORPHA:70593
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased circulating IgG le... OMIM:618394
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... OMIM:607676
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive, Failure to thrive secon... OMIM:601457
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Failure to thrive, Increased circulating IgG level, Splenomegaly... OMIM:617388
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... OMIM:608184
Immunodeficiency 46
Sepsis, Neutropenia, Failure to thrive, Recurrent sinopulmonary infections, Chronic oral candidia... OMIM:616740
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circulating antibod... OMIM:308240
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Recurrent bacterial infections... OMIM:606367
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... ORPHA:217390
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Reduced antige... OMIM:617241
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... OMIM:618204
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... OMIM:301000
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi... OMIM:260920
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respiratory infec... OMIM:618986
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Recurrent viral upper respiratory tract infections, Decreased ci... OMIM:615577
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Lymphadenopathy, Recurrent infections, Splenomegaly, Decreased circulating total IgM, Pan... OMIM:614700
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Failure to thrive, Decreased circulating antibody level, Reduced natural kille... OMIM:618108
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Failure to thrive OMIM:615592
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... OMIM:193670
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Cutaneous anergy, ... OMIM:600802
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil... ORPHA:572
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Weight loss, Anemi... OMIM:209950
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... ORPHA:555905
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Recurrent infections, Decreased circulating total IgM, Bronchiol... OMIM:614878
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections OMIM:246550
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurrent infections, R... OMIM:616576
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections, Splenomegaly, Lymphopenia, Obesity OMIM:605309
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgA level, Intermittent thrombocytopenia, I... OMIM:313900
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Lymphadenopathy, Recurrent upper and lower respiratory tract ... ORPHA:911
Multiple Myeloma
Increased circulating IgA level, Lymphadenopathy, Weight loss, Decreased circulating antibody lev... ORPHA:29073
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent protozoan infections, ... OMIM:209920
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Weight loss, Complement defi... ORPHA:91139
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... OMIM:616005
Insulin Autoimmune Syndrome
Weight loss, Increased circulating antibody level ORPHA:411593
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level, Small for gestational age OMIM:215250
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Failure to thrive, Decreased cir... OMIM:275350
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bro... OMIM:619164
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Lymphadenopathy, Failure to thrive, Hypoplasia... OMIM:603554
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Lymphadenopathy ORPHA:343
Immunodeficiency 13
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Xq28 (MECP2) duplication
Decreased circulating IgA level, Recurrent respiratory infections, Failure to thrive DECIPHER:45
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Myeloma, Multiple
Paraproteinemia OMIM:254500
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... OMIM:613179
Leishmaniasis
Leukopenia, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, I... ORPHA:507
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Selective Igm Deficiency
Sepsis, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... ORPHA:331235
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia, Recurrent respiratory infections, Recurrent otitis... OMIM:618523
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Recurrent ear infections, Recurrent viral infections, Absence of ly... ORPHA:79124
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Recurrent... ORPHA:183675
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Failure to thrive, Aplasia of the thymus, Recurrent upper respiratory trac... OMIM:602450
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Leukopenia, Increased circulating IgA level, Weight loss, Decreased s... ORPHA:2298
Primary Biliary Cholangitis
Increased circulating IgA level, Recurrent fungal infections, Increased circulating IgM level, On... ORPHA:186
Postinfectious Vasculitis
Cryoglobulinemia, Increased circulating IgA level, Weight loss, Increased circulating antibody le... ORPHA:48435
Schnitzler Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level ORPHA:37748
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Chronic oral ca... OMIM:150550
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Failure to thrive, Reduced natural killer cell count, Increased ... OMIM:242860
Netherton Syndrome
Failure to thrive, Decreased circulating IgG level, Recurrent infections, Increased circulating I... OMIM:256500
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... ORPHA:221139
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6, Increased circulating IgA level, Lymphadenopathy, Failure to... OMIM:256040
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Failure to thrive, Anemia, Recurrent infections, Splenomegaly, Increased circula... OMIM:617591
Immunodeficiency 23
Neutropenia, Failure to thrive, Abscess, Increased circulating IgG level, Chronic mucocutaneous c... OMIM:615816
Immunodeficiency 47
Recurrent bacterial infections, Normocytic anemia, Decreased circulating total IgA, Leukopenia, D... OMIM:300972
Prolidase Deficiency
Failure to thrive, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibody lev... OMIM:170100
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Igg4-Related Aortitis
Weight loss, Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE l... ORPHA:449400
Ataxia-Telangiectasia
Recurrent bronchitis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defect... OMIM:208900
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Lymphadenopathy, Weight loss, Increased circulating IgG4 level, ... ORPHA:79078
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Increased circ... ORPHA:3392
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... ORPHA:231154
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Weight loss ORPHA:90003
Bloom Syndrome
Small for gestational age, Leukemia, Decreased circulating IgA level, Decreased circulating IgG l... OMIM:210900
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
C3 Glomerulopathy
Decreased serum complement C4, Paraproteinemia, Recurrent infections, Decreased serum complement C3 ORPHA:329918
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Failure to thrive, Anemia, Increa... OMIM:304790
Alg12-Cdg
B lymphocytopenia, Sepsis, Recurrent ear infections, Partial absence of specific antibody respons... ORPHA:79324
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... ORPHA:83313
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Small for gestational ... ORPHA:125
Pneumocystosis
Weight loss, Abnormal neutrophil count, Chronic oral candidiasis, Increased circulating antibody ... ORPHA:723
Immunodeficiency 68
B lymphocytopenia, Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cel... OMIM:612260
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancy... OMIM:613385
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Failure to thrive, Increased circul... OMIM:618213
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Recurrent... OMIM:612301
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia, Large for gestational age OMIM:616638
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level OMIM:614328
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Normocytic hypoplastic anem... OMIM:610377
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Recurrent infections, Failure to thrive, Splenomegaly OMIM:613327
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Weight loss, Hypereosinophilia, Increased circulating IgE level ORPHA:2902
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Weight loss, Recurrent viral in... ORPHA:420741
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Increased circulating antibody level ORPHA:69126
Caffey Disease
Increased circulating antibody level ORPHA:1310
Ebola Hemorrhagic Fever
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia ORPHA:319218
Congenital Analbuminemia
Obesity, Increased circulating antibody level, Recurrent lower respiratory tract infections, Smal... ORPHA:86816
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Anemia, Bone marrow hypoc... OMIM:617303
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Netherton Syndrome
Increased circulating IgE level, Recurrent respiratory infections, Decreased circulating antibody... ORPHA:634
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Large for gestational age ORPHA:457485
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Decreased circulating IgA level, Failu... OMIM:212750
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent infections, Decr... ORPHA:90363
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Obesity ORPHA:3409
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Thrombocytosis, Decreased circulating IgG level, Failure to thrive OMIM:212065
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Failure to thrive in infancy, Cachexia, Neutropenia, Neutropenia in presence of anti-neut... ORPHA:37042
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia, Recurrent respiratory infections, Recurrent infect... ORPHA:2314
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Abscess, Weight loss, Increased circulating antibody level, Eos... ORPHA:400
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Increased circulating antibody level, Pancytopen... ORPHA:77259
Igg4-Related Submandibular Gland Disease
Lymphadenopathy, Increased circulating IgG4 level, Increased circulating IgG level, Complement de... ORPHA:449432
Lassa Fever
Sepsis, Increased circulating IgM level ORPHA:99824
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level OMIM:208910
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG level, R... OMIM:223370
Poems Syndrome
Thrombocytosis, Polycythemia, Lymphadenopathy, Weight loss, Increased circulating antibody level ORPHA:2905
Encephalitis Lethargica
Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly ORPHA:2137
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Patent ... ORPHA:505248
Q Fever
Cryoglobulinemia, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Increas... ORPHA:781
Alveolar Echinococcosis
Weight loss, Anemia, Abnormal spleen morphology, Increased circulating antibody level, Eosinophil... ORPHA:284
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Gaucher Disease Type 3
Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Recur... ORPHA:77261
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Monosomy 18Q
Decreased circulating IgA level, Slender build, Patent ductus arteriosus, Failure to thrive ORPHA:1600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Obesity, Decreased circulating total IgM, Patent ductus arteriosus ORPHA:369837
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age, Anemia, I... ORPHA:330015
Brucellosis
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Small for gestational age, Lymphadenopath... ORPHA:1304
Lysinuric Protein Intolerance
Recurrent bacterial infections, Leukopenia, Failure to thrive, Decreased circulating antibody lev... ORPHA:470
Al Amyloidosis
Weight loss, Increased circulating antibody level, Howell-Jolly bodies, Anemia ORPHA:85443
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Igg4-Related Kidney Disease
Lymphadenopathy, Lymphadenitis, Decreased serum complement C4, Weight loss, Increased circulating... ORPHA:449395
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Cryoglobulinemia, Lymphadenopathy, Decreased serum complement C4, ... ORPHA:289390
Sarcoidosis, Susceptibility To, 1
Mediastinal lymphadenopathy, Weight loss, Splenomegaly, Increased circulating antibody level, Gen... OMIM:181000
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Scleromyxedema
Paraproteinemia ORPHA:167635
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Rift Valley Fever
Thrombocytopenia, Increased circulating IgM level, Anemia, Increased circulating IgG level ORPHA:319251
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Abscess, Increased circu... ORPHA:228123
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:99826
Igg4-Related Ophthalmic Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Lymphadenopathy, Increased circulating IgG level, Splenomegaly, Neutrop... ORPHA:99827
Primary Sclerosing Cholangitis
Weight loss, Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly ORPHA:171
Gaucher Disease
Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocytopenia ORPHA:355
Cysticercosis
Increased circulating antibody level ORPHA:1560
Viss Syndrome
Decreased circulating IgA level, Failure to thrive, Increased circulating IgG level, Patent ductu... OMIM:619472
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Weight loss, Increased circulating Ig... ORPHA:91500
Trichinellosis
Increased circulating IgE level ORPHA:863
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,... ORPHA:99829
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Polysplenia, Splenomegaly ORPHA:373

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 Otud7b

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 Otud7b.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Otud7btm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Otud7btm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)