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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
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Severe infection, Recurrent tonsillitis, Sepsis, Decreased ... 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
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... 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
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf... OMIM:605258
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, Agammaglobulin... OMIM:613500
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... OMIM:606843
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Recurrent bacterial infections, Increased circulating IgM... OMIM:608106
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections... OMIM:300636
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:612692
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenom... OMIM:607624
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... ORPHA:169079
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... ORPHA:2688
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... OMIM:226990
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
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
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... OMIM:240500
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections OMIM:146830
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... OMIM:243700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection... ORPHA:572
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis OMIM:260570
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Abn... ORPHA:276
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... OMIM:613496
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... OMIM:601495
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... ORPHA:98813
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells OMIM:619693
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... OMIM:614493
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... ORPHA:83471
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i... ORPHA:911
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... OMIM:618986
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Recurrent tonsill... OMIM:618935
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... OMIM:300291
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ... OMIM:147060
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... OMIM:612840
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Impaired T cell function, Pure r... OMIM:613179
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, S... ORPHA:169090
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... OMIM:116920
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgA level, Abnormal ci... OMIM:618048
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Immunodeficiency 12
Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso... OMIM:615468
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor... OMIM:606367
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Recurrent respiratory infecti... ORPHA:167
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Liver abs... ORPHA:183675
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, Increased circulating IgG... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Abscess, Recurrent staphylococcal infections,... OMIM:615816
Indolent Systemic Mastocytosis
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology ORPHA:98848
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Recurrent pne... OMIM:608233
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Recurrent urinary tract infections, Polycythemia, Recurrent staphylococca... ORPHA:2968
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... OMIM:612541
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... OMIM:603903
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:178320
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma... ORPHA:221139
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Mirage Syndrome
Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Recurrent bacterial infections, Leu... OMIM:617053
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Decreased circulating an... OMIM:300972
Vici Syndrome
Recurrent respiratory infections, Lymphopenia, Recurrent viral infections, Decreased circulating ... OMIM:242840
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Decreased circulating antibody level, Increase... ORPHA:540
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Recurrent bacterial infections, Meningitis ORPHA:36412
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antib... OMIM:248500
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... ORPHA:244
Postinfectious Vasculitis
Persistent human papillomavirus infection, Increased circulating IgA level, Severe varicella zost... ORPHA:48435
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Recurrent bacterial infections, Leukocytosis, Anemia OMIM:615895
Chromomycosis
Recurrent bacterial infections ORPHA:182
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Glycogen Storage Disease Ib
Splenomegaly, Recurrent bacterial infections, Neutropenia OMIM:232220
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Sweet Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:3243
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Trigeminal Neuralgia
Allodynia ORPHA:221091
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Lysinuric Protein Intolerance
Thrombocytopenia, Decreased circulating antibody level, Hepatosplenomegaly, Recurrent bacterial i... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia ORPHA:79259
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Polyclonal ... ORPHA:171
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... ORPHA:3132
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Severe infection, Recurrent tonsillitis, Sepsis, Decreased ... ORPHA:2686
Benign Schwannoma
Allodynia ORPHA:252164
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia 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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