Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
defensin beta 3
Synonyms:
mBD-3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Defb3 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 Defb3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 53
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections OMIM:617585
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Monocyte and dendritic cell deficiency, autosomal recessive
Recurrent infections OMIM:614894
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency 35
Recurrent respiratory infections, Recurrent fungal infections, Recurrent viral infections, Recurr... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Tuftsin Deficiency
Recurrent infections OMIM:191150
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Immunodeficiency 50
Eczema, Recurrent respiratory infections, Neutropenia, Recurrent urinary tract infections, Lympho... OMIM:300988
Agammaglobulinemia 3, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Recurre... OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections OMIM:615214
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Immunodeficiency 32A
Recurrent infections OMIM:614893
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Frequent Giardia lamblia infestation, Rec... OMIM:300310
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Recurrent ba... OMIM:605258
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... OMIM:245480
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Disseminated nontuberculous mycobacterial infection, Recurrent mycobacterial infections, Recurren... ORPHA:319552
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
X-Linked Severe Congenital Neutropenia
Neutropenia, Recurrent bacterial infections, Monocytopenia ORPHA:86788
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Immunodeficiency 46
Intermittent thrombocytopenia, Meningitis, Neutropenia, Anemia, Sepsis, Recurrent sinopulmonary i... OMIM:616740
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:613493
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Recurrent infections OMIM:616941
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Recurrent bronchopulmonary infections ORPHA:90023
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedul... OMIM:615285
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Recurrent bacterial infections,... ORPHA:2688
Trimethylaminuria
Neutropenia, Anemia, Recurrent pneumonia, Splenomegaly OMIM:602079
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Non-caseating epithelioid cell g... OMIM:607665
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Neutropenia, Abnorma... OMIM:613502
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Inflammati... OMIM:619281
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:572
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Recurrent infections, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis OMIM:612692
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic lymphocytic men... OMIM:209920
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Recurrent infections, Uveitis, Hepatosplenomegaly, Hemophagocy... OMIM:615122
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, R... ORPHA:275
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomeg... OMIM:614470
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Meningitis, Recurrent sinusitis, Recurrent respiratory infections, Absent ... OMIM:619707
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:240500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Recurrent otitis media, Recurrent pneumonia, Lymphadenitis, Leukopenia, T lymphocyt... OMIM:618986
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Whim Syndrome 1
Neutropenia, Recurrent upper respiratory tract infections, Recurrent bacterial infections, Bronch... OMIM:193670
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Recurrent skin infections, Pneumonia, Monocytosis, Leukemia, Recurrent viral infect... ORPHA:486
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Recurrent upper respiratory tract infections, Decreased proporti... ORPHA:169154
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis... OMIM:607594
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, Severe infection, Chronic oral ... ORPHA:83471
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent viral infections, Recurrent bacterial infe... OMIM:243700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Autosomal Agammaglobulinemia
Sinusitis, Recurrent infections, Recurrent skin infections, Arthritis, Meningitis, Bronchiectasis... ORPHA:33110
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Recurrent bacterial infections, Bron... OMIM:601495
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningitis, Recurrent Haemophilus influenzae infections, Recurr... OMIM:610984
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Severe recurrent varicella, Recurrent bacterial infections... ORPHA:276
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Severe Epstein Barr virus infection, Hemophagocytosis, Infectious encephalitis, Spl... OMIM:308240
Cinca Syndrome
Eosinophilia, Uveitis, Hepatosplenomegaly, Leukocytosis, Meningitis, Anemia, Arthritis, Skin rash OMIM:607115
Felty Syndrome
Sinusitis, Recurrent pneumonia, Abnormal lymphocyte morphology, Recurrent infections, Splenomegal... ORPHA:47612
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Recurrent otitis media, Uveitis, Chronic neutropenia, Autoimmune hemolytic anemia, ... OMIM:614700
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, R... ORPHA:911
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, M... ORPHA:169090
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent fungal infections, Rec... OMIM:147060
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Uveitis, Conjunctivitis, Arthritis, Skin rash OMIM:120100
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233710
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Infectious encephalitis, Recurrent bacterial infections, Meningitis, Ente... OMIM:307200
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent gram-negative bact... OMIM:116920
Selective Igm Deficiency
Severe infection, Recurrent urinary tract infections, Recurrent herpes, Recurrent pneumonia, Recu... ORPHA:331235
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Maculopapular exanthema, ... OMIM:619644
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurr... ORPHA:183675
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233690
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Agammaglobulinemia, X-Linked
Recurrent otitis media, Prostatitis, Anemia, Epididymitis, Recurrent urinary tract infections, Co... OMIM:300755
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Severe infection, Severe cytomegalovirus infection, Splenomegaly,... ORPHA:158048
Onychotrichodysplasia And Neutropenia
Recurrent infections, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia, Lympho... OMIM:258360
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections OMIM:616005
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Recurrent res... ORPHA:3226
Adult-Onset Still Disease
Leukocytosis, Neutrophilia, Myocarditis, Splenomegaly, Meningitis, Hepatitis, Pericarditis, Recur... ORPHA:829
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Severe infection, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:304790
Idiopathic Aplastic Anemia
Pancytopenia, Recurrent infections, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Omenn Syndrome
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:603554
Bone Marrow Failure Syndrome 6
Neutropenia, Recurrent sinusitis, Anemia, Increased mean corpuscular volume, Persistence of hemog... OMIM:618849
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Neutrophilia, Oligoarthritis, Psoriasiform dermatitis, Pustule OMIM:614204
Bacterial Toxic-Shock Syndrome
Severe infection, Increased circulating myelocyte count, Hepatitis, Recurrent urinary tract infec... ORPHA:36234
Sweet Syndrome
Sterile abscess, Recurrent infections, Myositis, Leukocytosis, Acne inversa, Neutrophilia, Acute ... ORPHA:3243
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent bacterial inf... OMIM:613179
Cogan Syndrome
Uveitis, Leukocytosis, Inflammatory abnormality of the eye, Thrombocytosis, Scleritis, Episclerit... ORPHA:1467
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Recurrent bacterial infections, Severe varicella zoster infection, Re... OMIM:606367
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent bacterial infections, Recurrent upper and lower respiratory... ORPHA:331206
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Molluscum contagiosum, Recurrent bacterial infections OMIM:300291
Pneumocystosis
Abnormal neutrophil count, Interstitial pneumonitis, Chronic oral candidiasis, Pneumocystis jirov... ORPHA:723
Hyper-Igd Syndrome
Recurrent infections, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Neutrophilia, Splenomegaly... OMIM:260920
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:306400
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Pneumonia, Severe infection, Neutrophilia, Sepsis, Acute infectious pne... ORPHA:36238
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Uveitis, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Thyroi... OMIM:617388
Antiphospholipid Syndrome, Familial
Keratitis, Autoimmune thrombocytopenia, Scleritis, Iritis OMIM:107320
Immunodeficiency With Hyper-Igm, Type 1
Recurrent lower respiratory tract infections, Recurrent bacterial infections, Sepsis, Meningitis OMIM:308230
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Molluscum contagiosum, Severe varicella zoster infect... OMIM:615816
Juvenile Xanthogranuloma
Myeloproliferative disorder, Blepharitis, Uveitis, Iritis ORPHA:158000
Vici Syndrome
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... OMIM:242840
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis ORPHA:36412
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Recurrent viral infections, Recurrent bacterial infections, Recurrent f... ORPHA:221139
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Uveitis, Leukocytosis, Arthritis, Orchitis, Peritonitis, Splenomegaly, Peri... ORPHA:32960
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Panniculitis, Increased proportion of CD4-positive T cells, Skin rash OMIM:617099
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial inf... OMIM:608233
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Men... OMIM:249100
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Osteomyelitis, Pustule, Stomatitis, Abscess, Skin rash OMIM:612852
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Sepsis OMIM:612541
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Shigellosis
Uveitis, Pneumonia, Leukocytosis, Arthritis, Microangiopathic hemolytic anemia, Peritonitis, Myoc... ORPHA:810
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Severe infection, Infectious encephalitis, Scleritis... ORPHA:31204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal... OMIM:102700
Mirage Syndrome
Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis OMIM:617053
Blau Syndrome
Uveitis, Iritis, Erythema nodosum, Eczema, Synovitis, Nongranulomatous uveitis, Pericarditis, Art... OMIM:186580
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Recurrent otitis media, Recurrent pneumonia, Leukocytosis, Recurrent infection... ORPHA:99843
Chromomycosis
Recurrent bacterial infections ORPHA:182
Ch├ędiak-Higashi Syndrome
Recurrent infections, Recurrent streptococcal infections, Recurrent bacterial infections, Recurre... ORPHA:167
Autoimmune Lymphoproliferative Syndrome
Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Recurr... ORPHA:3261
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Severe Epstein Barr virus infection, Recurrent mycoba... ORPHA:48435
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections ORPHA:244
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Iritis, Sacroiliac arthritis, Iridocyclitis, Oligoarthritis, Malar rash, Psoriasiform de... ORPHA:85436
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyogenic infections OMIM:214500
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Relapsing Polychondritis
Chondritis of pinna, Uveitis, Arthritis, Inflammatory abnormality of the eye, Scleritis, Myocardi... ORPHA:728
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Severe cytomegalovirus infection, Recurrent bacterial infections, Rec... OMIM:619573
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Recurrent tonsillitis, Meningitis, Recurrent fungal infections, R... ORPHA:2968
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, C... ORPHA:3260
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Immunodeficiency 47
Recurrent infections, Recurrent bacterial infections OMIM:300972
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Sepsis, Recurrent viral infections ORPHA:811
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Acute pancreatitis, Leukopenia, Erythema nodosum, Leukocytosis, Parotitis, Orchitis... ORPHA:99827
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent infections, Recurrent bacterial infections ORPHA:2273
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Yellow Fever
Acute pancreatitis, Leukocytosis, Neutrophilia, Opportunistic infection, Thrombocytopenia, Skin rash ORPHA:99829
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 Defb3

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 Defb3.

There are 4 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) Defb30tm2b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Defb30tm2b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Defb30tm2b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Defb30tm2b(KOMP)Wtsi