Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
interferon epsilon
Synonyms:
Ifnt1,  Ifne1

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 Ifne 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 Ifne by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Recur... OMIM:615707
Immunodeficiency 18
Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr... OMIM:615615
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Reduced natural killer cell count, Recurrent infections, Neutro... OMIM:615214
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Reduced natural killer cell count, Recurrent infections, Hepat... OMIM:618261
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count, Chronic oral candidiasis, Recurrent infections OMIM:615592
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Hypereosinophilia, Chronic tinea infection, Chronic oral candi... OMIM:212050
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... OMIM:613500
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency 102
Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurrent upper respiratory tract... OMIM:301082
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Post-vaccination varicella zoster virus infection, ... OMIM:615401
Immunodeficiency 19
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... OMIM:615617
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Recurrent herpes, Decreased proportion of naive T cells, Chronic oral candidiasis, R... ORPHA:276
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 24
Decreased CD4:CD8 ratio, Recurrent viral infections, Severe varicella zoster infection, Reduced p... OMIM:615897
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... OMIM:243700
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia OMIM:300988
Cernunnos-Xlf Deficiency
Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infections, B lymphocy... ORPHA:169079
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... ORPHA:217390
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia OMIM:616873
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, T lymphocytopenia, B lymphocytopenia, Reduced... OMIM:618108
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... ORPHA:2688
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... OMIM:613502
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent urinary tract infectio... OMIM:619802
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Persistent EBV viremia, T lymphocytopenia, Decreased proportion... OMIM:619510
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Post-vaccination polio, B lymphocytopenia, Recurrent infections OMIM:616941
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni... OMIM:612692
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... OMIM:608184
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count, Recurrent respiratory infections, Recurrent vira... OMIM:609981
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... OMIM:607676
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Neutro... ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Recurrent respiratory infections OMIM:233650
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Immunodeficiency 68
Abscess, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnormal natural kil... OMIM:612260
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Pyoderma ga... OMIM:616576
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Severe cytomegalovirus infection, T l... OMIM:619313
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Reticular Dysgenesis
Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Recurren... ORPHA:331206
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia OMIM:193670
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Reticular Dysgenesis
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Skin ulcer, Leukopenia, Anemia ORPHA:33355
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:619752
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... OMIM:116920
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Immunodeficiency, Common Variable, 1
Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Decrease... OMIM:607594
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Au... ORPHA:572
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Recurren... OMIM:600802
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic lymph... OMIM:616005
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... OMIM:300310
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Meningitis, Thrombocytopenia OMIM:616050
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Immunodeficiency 55
Absent natural killer cells, Dry skin, Recurrent infections, Neutropenia, Lymphopenia OMIM:617827
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Dracunculiasis
Recurrent cutaneous abscess formation, Skin ulcer ORPHA:231
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormality of neutrophi... ORPHA:229717
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... ORPHA:83471
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, ... OMIM:612840
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Purpura, Recurrent bacterial infections, Autoimmune thrombocyto... OMIM:613496
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Aplasia Cutis-Myopia Syndrome
Meningitis, Skin ulcer ORPHA:1117
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent... OMIM:240500
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Skin ulcer, Recurrent bronchitis OMIM:604571
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ... OMIM:608233
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Erythema, Chronic mucocuta... OMIM:147060
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent b... OMIM:619164
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral ... ORPHA:169154
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, B lymphocy... OMIM:601495
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Petechiae OMIM:620133
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma... ORPHA:221139
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva... ORPHA:158048
Chilblain Lupus 1
Skin ulcer OMIM:610448
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... ORPHA:169090
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Classic Mycosis Fungoides
Splenomegaly, Erythema, Skin ulcer, Abnormal lymphocyte morphology, Dry skin ORPHA:2584
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Invasive fungal infection, Increased T cell count, Recurrent mycobacterial infections, Severe vir... ORPHA:98813
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... ORPHA:331235
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... OMIM:613179
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimm... OMIM:619846
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Recurrent viral infections, Recurrent bacterial infections, B lymphocyto... OMIM:618048
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Pancytopenia, Impaired neutrophil chemotaxis, Severe varicella ... OMIM:618986
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... ORPHA:507
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Buerger Disease
Skin ulcer ORPHA:36258
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thromb... OMIM:301074
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Skin ulcer ORPHA:352723
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis, Steril... OMIM:604416
Necrobiosis Lipoidica
Erythema, Granuloma, Skin ulcer, Abnormality of neutrophil physiology ORPHA:542592
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Skin ulcer, Anemia, Neutropen... ORPHA:47
Immunodeficiency 12
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Abnormal lymphocyte... OMIM:615468
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc... OMIM:615816
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Thrombocytopenia ORPHA:848
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Prolidase Deficiency
Petechiae, Splenomegaly, Recurrent pneumonia, Skin ulcer, Recurrent infections, Anemia, Thrombocy... OMIM:170100
Calciphylaxis
Sepsis, Skin ulcer ORPHA:280062
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Free Sialic Acid Storage Disease
Splenomegaly, Recurrent respiratory infections, Skin ulcer ORPHA:834
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Chronic Granulomatous Disease
Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Splenomegaly, Sepsis... ORPHA:379
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect... ORPHA:183675
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Chilblain Lupus
Skin ulcer, Chronic myelomonocytic leukemia ORPHA:90280
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Pneumocystis carinii pneumonia, Splenomegaly, Sepsis,... OMIM:308230
Acquired Purpura Fulminans
Pyoderma gangrenosum, Sepsis, Thrombocytopenia, Macular purpura ORPHA:49566
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... OMIM:612541
Mirage Syndrome
Recurrent urinary tract infections, Petechiae, Sepsis, Anemia, Leukopenia, Recurrent bacterial in... OMIM:617053
Acrogeria
Excessive wrinkled skin, Skin ulcer ORPHA:2500
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Recurrent urinary tract infections, Erythema, Skin ulcer, Recur... ORPHA:1334
Ollier Disease
Skin ulcer, Anemia ORPHA:296
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Acute Radiation Syndrome
Skin ulcer, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Skin ulcer, Hepatosplenomegaly ORPHA:86884
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Eosinophilia, Skin ulcer, Recurrent infections, Skin vesicle ORPHA:2314
Pyoderma Gangrenosum
Skin vesicle, Myeloid leukemia, Skin ulcer ORPHA:48104
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, Recurrent infections, T lymphocytopenia, B l... OMIM:619381
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi... ORPHA:167
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Prolidase Deficiency
Recurrent respiratory infections, Recurrent cystitis, Splenomegaly, Erythema, Skin ulcer, Dry skin ORPHA:742
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... OMIM:603903
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Invasive fungal infection, Unusual CNS in... ORPHA:228119
Limited Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220402
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu... OMIM:615966
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Skin ulcer, Hepatosplenomegaly, Recurrent infections, L... OMIM:615688
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Pyoderma gangrenosum, Chronic lymphatic leuke... ORPHA:3243
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Skin ulcer ORPHA:36386
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Petechiae, Mi... ORPHA:906
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Cutis laxa, Leukopenia, ... OMIM:300972
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Skin ulcer ORPHA:1806
Takayasu Arteritis
Skin ulcer, Anemia ORPHA:3287
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... OMIM:242840
Polyarteritis Nodosa
Erythema, Skin ulcer ORPHA:767
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Cryoglobulinemic Vasculitis
Splenomegaly, Petechiae, Skin ulcer, Purpura ORPHA:91138
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... ORPHA:2968
Flynn-Aird Syndrome
Skin ulcer ORPHA:2047
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Skin ulcer ORPHA:2176
Meige Disease
Recurrent bacterial skin infections, Skin ulcer ORPHA:90186
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Meningitis, Recurrent bacterial infections ORPHA:36412
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Anemia OMIM:608068
Lichen Planopilaris
Skin ulcer ORPHA:525
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Brooke-Spiegler Syndrome
Skin ulcer ORPHA:79493
Reynolds Syndrome
Infectious encephalitis, Skin ulcer ORPHA:779
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Erythema, Sepsis, Skin ulcer, Anemia, Neutropenia, Thrombocytop... ORPHA:537
Papa Syndrome
Skin ulcer ORPHA:69126
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Skin ulcer, Macular purpura, Ecchymosis, Polycythemia, Anemia ORPHA:542643
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections OMIM:248500
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Leukocytosis, Recurrent bacterial infections, Anemia OMIM:615895
Dermatoosteolysis, Kirghizian Type
Skin ulcer ORPHA:1657
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... ORPHA:244
Familial Multiple Nevi Flammei
Skin ulcer ORPHA:624
Postinfectious Vasculitis
Palpable purpura, Persistent human papillomavirus infection, Severe varicella zoster infection, I... ORPHA:48435
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Infantile Myofibromatosis
Skin ulcer ORPHA:2591
Chromomycosis
Recurrent bacterial infections ORPHA:182
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer ORPHA:659
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Skin ulcer, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Giant Cell Arteritis
Recurrent pharyngitis, Meningitis, Skin ulcer ORPHA:397
Glycogen Storage Disease Ib
Splenomegaly, Recurrent bacterial infections, Neutropenia OMIM:232220
Dyskeratosis Congenita
Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Ski... ORPHA:1775
Acrodermatitis Enteropathica
Erythema, Dry skin, Skin ulcer ORPHA:37
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Werner Syndrome
Lack of skin elasticity, Skin ulcer ORPHA:902
Cushing Disease
Leukocytosis, Recurrent cutaneous fungal infections, Skin ulcer, Decreased eosinophil count, Ecch... ORPHA:96253
Primary Sjögren Syndrome
Normocytic anemia, Skin ulcer, Dry skin, Leukopenia, Normochromic anemia, Decreased proportion of... ORPHA:289390
Immunoglobulin A Vasculitis
Erythema, Infectious encephalitis, Skin ulcer, Purpura ORPHA:761
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Microscopic Polyangiitis
Erythema, Skin ulcer ORPHA:727
Incontinentia Pigmenti
Erythema, Infectious encephalitis, Eosinophilia, Skin ulcer ORPHA:464
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220393
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Erythema, Skin ulcer, Dry skin ORPHA:221
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Skin ulcer, Granuloma, Infectious encephalitis, Increased red blood cell ... ORPHA:68
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Skin ulcer, Granulomatosis, Meningitis, Purpura ORPHA:900
Juvenile Dermatomyositis
Erythema, Dry skin, Skin ulcer ORPHA:93672
Granulomatosis With Polyangiitis
Granulomatosis, Skin ulcer OMIM:608710
Hajdu-Cheney Syndrome
Splenomegaly, Dry skin, Recurrent respiratory infections, Skin ulcer ORPHA:955
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia ORPHA:79259
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Lysinuric Protein Intolerance
Hepatosplenomegaly, Anemia, Leukopenia, Recurrent bacterial infections, Hemophagocytosis, Thrombo... ORPHA:470
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Dry skin, Scaling skin, Skin ulcer ORPHA:2526
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Chime Syndrome
Erythema, Skin ulcer, Acute leukemia ORPHA:3474
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, Anemia, Ec... ORPHA:2072
Chronic Graft Versus Host Disease
Pancytopenia, Erythema, Skin ulcer, Recurrent infections, Skin vesicle ORPHA:99921
Hereditary Acrokeratotic Poikiloderma
Erythema, Skin ulcer ORPHA:2907
Oculocerebrorenal Syndrome Of Lowe
Anemia, Recurrent respiratory infections, Skin ulcer, Thrombocytopenia ORPHA:534
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... ORPHA:171
Plague
Splenomegaly, Sepsis, Skin ulcer, Dry skin, Meningitis ORPHA:707
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Recurrent cutaneous fungal infections, Skin ulcer, Decreased eosinophil count, Ecch... ORPHA:99889
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Erythema, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Systemic Sclerosis
Acral ulceration, Digital ulcer ORPHA:90291
Malakoplakia
Skin ulcer ORPHA:556
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Simple Cryoglobulinemia
Purpura, Acral ulceration, Chronic lymphatic leukemia ORPHA:91139
Blau Syndrome
Splenomegaly, Erythema, Skin ulcer, Dry skin, Anemia ORPHA:90340
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Insensitivity To Pain, Congenital, With Anhidrosis
Acral ulceration OMIM:256800
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin ulcer, Sepsis, Anemia, Neutropenia ORPHA:95455
Blau Syndrome
Skin ulcer OMIM:186580
Atypical Werner Syndrome
Lack of skin elasticity, Skin ulcer ORPHA:79474
Leprosy
Abnormality of the spleen, Penetrating foot ulcers, Acral ulceration ORPHA:548
Hereditary Sensory And Autonomic Neuropathy Type 4
Abscess, Recurrent Staphylococcus aureus infections, Dry skin, Tooth abscess, Anemia ORPHA:642
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acral ulceration OMIM:256810
Split Cord Malformation
Penetrating foot ulcers ORPHA:573278

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 Ifne

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 Ifne.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ifnetm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ifnetm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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