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Gene: Elane MGI:2679229

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
elastase, neutrophil expressed
Synonyms:
Ela2,  NE,  F430011M15Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Elane 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.

The table below shows human diseases associated to Elane by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Cyclic Neutropenia
Sepsis, Opportunistic infection, Perianal abscess, Cyclic neutropenia, Lymphopenia, Recurrent ton... ORPHA:2686

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... OMIM:614372
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immunodeficiency 53
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections OMIM:617585
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... OMIM:613502
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... OMIM:619437
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... OMIM:608957
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... OMIM:300310
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections, Neutropenia OMIM:615214
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Recurrent staphylococcal infections, Recu... OMIM:607676
Immunodeficiency 33
Recurrent bacterial infections, Decreased circulating total IgM, Disseminated nontuberculous myco... OMIM:300636
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... OMIM:608184
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:243700
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Recurrent oti... OMIM:601495
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... OMIM:193670
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Severe toxoplasmosis, Coccidioidomycosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... ORPHA:319552
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:233710
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... OMIM:209920
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... OMIM:306400
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... OMIM:240500
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Lack of T cell function, Neutropen... ORPHA:572
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis OMIM:266265
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Decreased proportion of naive T cells, Recurrent opportun... ORPHA:276
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... OMIM:616005
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... OMIM:614493
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... ORPHA:331206
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... ORPHA:83471
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, B lymphocytopenia, Severe varicella zoster infection, Neutropenia, Leukopenia, Partial ab... OMIM:618986
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Recurrent fungal infections, Recurrent viral i... OMIM:603554
Immunodeficiency 10
Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia OMIM:612783
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... OMIM:617475
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal abscess, Hepatosplenomegaly,... OMIM:618935
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... OMIM:308230
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, E... OMIM:612840
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... OMIM:116920
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... OMIM:613179
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... ORPHA:169090
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... ORPHA:331235
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Recurrent infections, Giant neutrophil granules... OMIM:214500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... OMIM:307200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Recurrent fun... OMIM:102700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, B lymphocytopenia, Severe varicella zoster infection, Decreased c... OMIM:606367
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Pulmonary tuberculosis, Decreased specific pneumococcal a... ORPHA:183675
Chédiak-Higashi Syndrome
Recurrent bacterial infections, Abnormal natural killer cell morphology, Neutropenia, Abnormal pl... ORPHA:167
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... OMIM:603585
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... OMIM:613470
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... OMIM:610984
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly ORPHA:98848
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... OMIM:612541
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency 23
Severe varicella zoster infection, Neutropenia, Eosinophilia, Abscess, Increased circulating IgG ... OMIM:615816
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Neutropenia, Chronic oral candidiasis, Recurrent otitis media, Re... OMIM:608233
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Sepsis, Leukocytosis, Thrombocytosis, BCGosis, Polycythemia, Recu... ORPHA:2968
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... ORPHA:70578
Acute Lung Injury
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of tumor ne... ORPHA:178320
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Cutaneou... OMIM:242840
Sickle Cell Anemia
Recurrent bacterial infections, Leukocytosis, Splenomegaly, Increased red cell sickling tendency,... OMIM:603903
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... ORPHA:221139
Whim Syndrome
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating antibody level, Mening... ORPHA:51636
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Sepsis, Chronic neutropenia, Macrocytic anemia, Neutropenia, Norm... ORPHA:811
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... OMIM:617053
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Macrophage Activation Syndrome
Increased circulating interleukin 6, Increased serum interferon-gamma level, Abnormality of tumor... ORPHA:158061
Immunodeficiency 47
Recurrent bacterial infections, Normocytic anemia, Decreased circulating total IgA, Leukopenia, D... OMIM:300972
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Splenomegaly ORPHA:36412
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Decreased circulating a... ORPHA:540
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... OMIM:248500
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Increased circulati... ORPHA:48435
Chromomycosis
Recurrent bacterial infections ORPHA:182
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... OMIM:619573
Primary Ciliary Dyskinesia
Asplenia, Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial inf... ORPHA:244
Glycogen Storage Disease Ib
Recurrent bacterial infections, Neutropenia OMIM:232220
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Sweet Syndrome
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... ORPHA:3243
Mastocytosis
Chronic leukemia, Mastocytosis, Acute leukemia, Splenomegaly ORPHA:98292
Trigeminal Neuralgia
Allodynia ORPHA:221091
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia, Chronic neutropenia ORPHA:79259
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Lysinuric Protein Intolerance
Recurrent bacterial infections, Leukopenia, Decreased circulating antibody level, Anemia, Hepatos... ORPHA:470
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Benign Schwannoma
Allodynia ORPHA:252164
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... ORPHA:3132
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections ORPHA:2273
Cyclic Neutropenia
Sepsis, Opportunistic infection, Perianal abscess, Cyclic neutropenia, Lymphopenia, Recurrent ton... ORPHA:2686
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Abscess, Tooth abscess, Recurrent Staphylococcus aureus infections ORPHA:642
Pmm2-Cdg
Impaired neutrophil chemotaxis ORPHA:79318

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 Elane

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 Elane.

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

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MGI Allele Allele Type Produced
Elanetm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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