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:
N/A

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
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
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
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Recurrent vulvovaginal candidiasis, Onychomycosis OMIM:613108
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Immunodeficiency 53
Recurrent otitis media, Recurrent infections, Recurrent respiratory infections OMIM:617585
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
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 viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... 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
Recurrent infections, Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, 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
Immunodeficiency 50
Lymphopenia, Recurrent urinary tract infections, Neutropenia, Eczema, Recurrent respiratory infec... OMIM:300988
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri... OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:614868
Immunodeficiency 32A
Recurrent infections OMIM:614893
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam... OMIM:300310
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections... OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:613502
Immunodeficiency 51
Recurrent bronchitis, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Recur... OMIM:613953
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Complement Factor B Deficiency
Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Severe toxoplasmosis, Recurren... ORPHA:319552
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Neutropenia, Sinusitis, C... OMIM:601495
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Neutropenia, Recurrent sinopulmonary inf... OMIM:616740
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... OMIM:243700
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, Recurrent infections, B lymphocytopenia OMIM:616941
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Recurrent bacteria... OMIM:613493
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Recurrent bronchopulmonary infections ORPHA:90023
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Recurrent infections, Leukopenia, Sp... OMIM:615285
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Recurrent fungal infections, Helicobacter pylori infection, Lymphopen... ORPHA:2688
Specific Granule Deficiency 2
Recurrent pneumonia, Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Th... OMIM:617475
Immunodeficiency 33
Disseminated nontuberculous mycobacterial infection, Recurrent bacterial infections OMIM:300636
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Recurrent pneumonia OMIM:602079
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Panuveitis, Uveitis, Glomerulonephritis, Anterior ... OMIM:607665
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... OMIM:619281
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Bronchiectasis, Chronic oral candidiasis, ... OMIM:150550
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Lymphoproliferative Syndrome 2
Hemophagocytosis, Persistent EBV viremia, EBV meningitis, EBV encephalitis, Uveitis, Severe varic... OMIM:615122
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent urinary trac... OMIM:209920
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Immunodeficiency 55
Eczema, Recurrent skin infections, Recurrent infections, Neutropenia OMIM:617827
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Bronchiectasis, Lymphadenitis, Recurrent otitis media, Recurren... OMIM:618986
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Recurrent... OMIM:604173
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Meningitis, Recurrent pneumoni... OMIM:240500
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Whim Syndrome 1
Neutropenia, Recurrent bacterial infections, Bronchiectasis, Recurrent upper respiratory tract in... OMIM:193670
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Periodontitis, Lymphopenia, Leukemia, Recurrent viral infections, Pneumonia, Recurre... ORPHA:486
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility... OMIM:266265
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Recurrent... OMIM:607594
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Neutropenia, Meningitis, Conjunct... ORPHA:33110
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Cinca Syndrome
Skin rash, Leukocytosis, Uveitis, Meningitis, Anemia, Hepatosplenomegaly, Eosinophilia, Arthritis OMIM:607115
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Recurrent urinary tract infec... ORPHA:47612
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Severe Epstein Barr virus infection, Neutropenia, Pancytopenia, ... OMIM:308240
Immunodeficiency 47
Recurrent bacterial infections OMIM:300972
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Chron... ORPHA:911
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Pneumonia, Pancytopenia, Decreased proportion of class-switched memo... OMIM:614700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, Meningitis, Encephalitis, E... OMIM:307200
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Periodontitis, Tooth abscess, Cyc... ORPHA:2686
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent viral infections, Meningitis, Recurrent mycobacterial infe... ORPHA:169090
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary ... OMIM:147060
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent otitis media, Recurrent sinusitis, Recurre... OMIM:610984
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Conjunctivitis, Arthritis OMIM:120100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Recurrent bact... OMIM:116920
Selective Igm Deficiency
Recurrent urinary tract infections, Onychomycosis, Pulmonary tuberculosis, Recurrent vulvovaginal... ORPHA:331235
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Recurrent infections, Neutropenia, Anemia OMIM:617056
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia, Recurrent inf... OMIM:258360
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:306400
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Chronic otitis media, Recurrent respiratory infections, Thrombocytopenia, Abnormal ... ORPHA:3226
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections OMIM:616005
Adult-Onset Still Disease
Skin rash, Pericarditis, Leukocytosis, Meningitis, Hepatitis, Splenomegaly, Myocarditis, Neutroph... ORPHA:829
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Neutropenia, Severe ... OMIM:304790
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Recurrent infections, Anemia ORPHA:88
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Omenn Syndrome
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:603554
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Sinusitis, Myocarditis, My... ORPHA:36234
Psoriasis 14, Pustular
Pustule, Leukocytosis, Cholangitis, Oligoarthritis, Neutrophilia, Psoriasiform dermatitis OMIM:614204
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Sweet Syndrome
Inflammation of the large intestine, Pustule, Leukocytosis, Chronic lymphatic leukemia, Panniculi... ORPHA:3243
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent bacterial infections OMIM:612840
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Cogan Syndrome
Thrombocytosis, Scleritis, Leukocytosis, Uveitis, Conjunctivitis, Keratitis, Episcleritis, Anemia... ORPHA:1467
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent fungal infections, Chronic oral candidiasis, Recurrent viral infections, Severe varicel... OMIM:606367
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent vi... ORPHA:331206
Whim Syndrome
Severe periodontitis, Parotitis, Bronchiectasis, Recurrent upper respiratory tract infections, Ly... ORPHA:51636
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Molluscum contagiosum, Recurren... OMIM:260920
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Acute infectious pneumonia, Abnormal neutroph... ORPHA:723
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Keratoconjunctivitis sicca... OMIM:617388
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Immunodeficiency With Hyper-Igm, Type 1
Meningitis, Sepsis, Recurrent lower respiratory tract infections, Recurrent bacterial infections OMIM:308230
Antiphospholipid Syndrome, Familial
Autoimmune thrombocytopenia, Keratitis, Scleritis, Iritis OMIM:107320
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Acute infectious pneumonia, Pneumonia, Severe infection, Leukopenia, Neutrophilia, ... ORPHA:36238
Immunodeficiency 23
Recurrent staphylococcal infections, Persistent EBV viremia, Recurrent Staphylococcus aureus infe... OMIM:615816
Juvenile Xanthogranuloma
Blepharitis, Myeloproliferative disorder, Uveitis, Iritis ORPHA:158000
Vici Syndrome
Recurrent fungal infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recur... OMIM:242840
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Liver abscess, Anemia ORPHA:54251
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells, Neutrophilia OMIM:617099
Hypocomplementemic Urticarial Vasculitis
Meningitis, Recurrent bacterial infections ORPHA:36412
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Recurrent otitis media, Recurrent abscess formatio... OMIM:608233
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurr... ORPHA:221139
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Stomatitis, Splenomegaly, Neutrophilia, Abscess, Osteomyelitis OMIM:612852
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Psoriasiform dermatitis, Oligoarthritis,... OMIM:106300
Shigellosis
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Uve... ORPHA:810
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent respiratory infections, Recurrent bacterial infections OMIM:612541
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Leukocytosis, Uveitis, Orchitis, Conjunctivitis, Erysipelas... ORPHA:32960
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Familial Mediterranean Fever
Peritonitis, Pericarditis, Leukocytosis, Orchitis, Meningitis, Erysipelas, Splenomegaly, Neutroph... OMIM:249100
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections OMIM:617053
Blau Syndrome
Pericarditis, Iritis, Uveitis, Synovitis, Nongranulomatous uveitis, Eczema, Erythema nodosum, Art... OMIM:186580
Nocardiosis
Peritonitis, Cutaneous abscess, Endocarditis, Pericarditis, Scleritis, Lymphadenitis, Thyroiditis... ORPHA:31204
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Recurrent gastroenteritis, Microcytic anemia, Leukocytosis, Recurrent otiti... ORPHA:99843
Chromomycosis
Recurrent bacterial infections ORPHA:182
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:102700
Ch├ędiak-Higashi Syndrome
Recurrent streptococcal infections, Recurrent staphylococcal infections, Recurrent bacterial skin... ORPHA:167
Psoriasis-Related Juvenile Idiopathic Arthritis
Skin rash, Iridocyclitis, Iritis, Uveitis, Sacroiliac arthritis, Malar rash, Oligoarthritis, Ante... ORPHA:85436
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyogenic infections OMIM:214500
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Scleritis, Pericarditis, Uveitis, Conjunctivitis, Hepatitis, Ker... ORPHA:728
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent fungal infections, BCGosis, Chronic oral candidiasis, Recurrent ... ORPHA:2968
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Thrombocytosis, Leukocytosis, Erythroderma, Colitis, Thromb... ORPHA:3260
Shwachman-Diamond Syndrome
Sepsis, Recurrent viral infections, Recurrent bacterial infections ORPHA:811
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Japanese Encephalitis
Neutrophilia, Meningitis, Encephalitis ORPHA:79139
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
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