Gene Summary

Name:
anoctamin 2
Synonyms:
Tmem16b

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
decreased anxiety-related response Ano2em1(IMPC)Ccpcz HOM Early adult 9.24×10-07
enlarged thymus Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal behavior Ano2em1(IMPC)Ccpcz HOM   Early adult 1.17×10-05
abnormal thymus morphology Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
hyperactivity Ano2em1(IMPC)Ccpcz HOM   Early adult 1.06×10-06
preweaning lethality, incomplete penetrance Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
decreased thigmotaxis Ano2em1(IMPC)Ccpcz HOM   Early adult 1.17×10-05

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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.

X-ray

XRay Images Hind Leg and Hip

42 Images

X-ray

XRay Images Skull Lateral Orientation

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

X-ray

XRay Images Forepaw

21 Images

Human diseases caused by Ano2 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 Ano2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Schizophrenia 15
Hyperactivity OMIM:613950
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Kerion Celsi
Lymphadenopathy ORPHA:499
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyng... ORPHA:100083
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosple... OMIM:209950
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... ORPHA:3077
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Pleural Mesothelioma
Lymphadenopathy, Dysphagia ORPHA:50251
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Anorexia, Lymphadenopathy ORPHA:391
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytopenia, Lymphaden... ORPHA:507
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Alpha-Heavy Chain Disease
Splenomegaly, Anemia, Lymphadenopathy ORPHA:100025
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... OMIM:615559
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... OMIM:614470
Thyroid Lymphoma
Goiter, Lymphadenopathy, Dysphagia ORPHA:97285
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Dysphagia, Nodular goiter ORPHA:1332
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Rhabdoid Tumor
Irritability, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos... OMIM:612840
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Aregenerative Anemia
Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni... ORPHA:101096
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Anorexia, Splenomegaly, Leukocytosis, Thrombocytopeni... ORPHA:824
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad... ORPHA:100026
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Goiter OMIM:275000
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy, Dysphagia ORPHA:142
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Anemia, Lymphadenopathy ORPHA:37748
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas... OMIM:619375
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Aggressive Systemic Mastocytosis
Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatospl... ORPHA:98850
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m... ORPHA:98848
Classic Mycosis Fungoides
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Irritability, Sea-blue ... OMIM:257200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:618495
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:601859
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Congenital Toxoplasmosis
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:858
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypoch... ORPHA:514
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy OMIM:609981
Immunodeficiency, Common Variable, 1
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class... OMIM:607594
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:603909
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, B lymphocytopenia, Lymphadenopathy ORPHA:397596
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testi... ORPHA:54251
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia OMIM:615387
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis OMIM:615122
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... ORPHA:3226
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic ... OMIM:614034
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... ORPHA:276
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Lymphocytosis, Hemophagocytosis, Ne... OMIM:308240
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hyperactivity, Aggressive behavior OMIM:252920
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... OMIM:613011
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Addictive al... ORPHA:520
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Agit... ORPHA:100924
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian neoplasm, Lym... ORPHA:83469
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... ORPHA:97289
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce... OMIM:301078
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosple... OMIM:618935
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... ORPHA:449291
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow hypocellularit... ORPHA:381
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Roifman Syndrome
Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy, Decreased e... ORPHA:2686
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Thrombocytopenia, Lymphadenopathy, Irritability, Leukopenia, Hemophagocytosis, Anemia OMIM:267700
Sézary Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Irritability, ... OMIM:603553
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Carney Triad
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Anemia ORPHA:139411
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia OMIM:616100
Nephroblastoma
Lymphadenopathy ORPHA:654
Legionnaires Disease
Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia ORPHA:549
Papa Syndrome
Lymphadenopathy ORPHA:69126
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Cinca Syndrome
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal granulocyte mor... ORPHA:1451
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Felty Syndrome
Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutropenia, Abnorm... ORPHA:47612
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cel... ORPHA:158061
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane... OMIM:304790
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy ORPHA:79456
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Anorexia, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma ORPHA:1333
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Thrombocytopenia, ... ORPHA:50918
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... ORPHA:160
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:169090
Familial Gestational Hyperthyroidism
Goiter, Hyperactivity, Agitation, Thyroid hyperplasia ORPHA:99819
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Lig4 Syndrome
Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphadenopathy ORPHA:99812
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, ... ORPHA:85450
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Anorexia, Splenomegaly, Lymphadenopathy, Leukemia ORPHA:33226
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Hyperactivity, Agitation, Thyroid hyperplasia ORPHA:424
Adult-Onset Still Disease
Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Bone marrow hypocellularity ORPHA:829
Graft Versus Host Disease
Hemophagocytosis, Irritability, Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Abnormal dense granules, Splenomegaly, Thrombocytopeni... OMIM:214500
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Neutrope... OMIM:308230
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... ORPHA:79124
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Lymphade... OMIM:610377
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Leukopenia, Agitat... OMIM:615688
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:97287
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100082
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Mixed Connective Tissue Disease
Hemolytic anemia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia ORPHA:809
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100086
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... OMIM:615934
Hyperthyroidism, Nonautoimmune
Goiter, Hyperactivity, Thyroid hyperplasia OMIM:609152
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Anemia OMIM:615895
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia OMIM:300755
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:233710
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia ORPHA:293173
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Q Fever
Anorexia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:233690
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,... ORPHA:83471
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Lymphadenopathy ORPHA:139402
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia... ORPHA:3261
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia ORPHA:1572
Farber Disease
Thrombocytopenia, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:333
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... ORPHA:167
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100075
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Splenomegaly, Cervical lymphadenopathy, Ly... OMIM:602782
Poems Syndrome
Thrombocytosis, Polycythemia, Increased circulating prolactin concentration, Lymphadenopathy ORPHA:2905
Systemic Lupus Erythematosus
Hemolytic anemia, Lymphadenopathy, Depression, Leukopenia, Thrombocytopenia ORPHA:536
H Syndrome
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Decreased testicular size, Histiocytosis ORPHA:168569
Brucellosis
Anorexia, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocytopenia, Orchitis, Lymphadenopathy,... ORPHA:1304
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:306400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... ORPHA:37042
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Splenome... OMIM:614162
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Anorexia, Adrenocorticotropic hormone ex... ORPHA:100079
Igg4-Related Submandibular Gland Disease
Eosinophilia, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphadenopathy, Enlargemen... ORPHA:449432
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Lymphadenopathy, Polysplenia, Anemia OMIM:619418
Histidinemia
Hyperactivity ORPHA:2157
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Follicular hyperplasia, Splenomegaly, Lymphadeno... OMIM:619381
Multiple Myeloma
Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, N... ORPHA:99889
Behçet Disease
Anorexia, Orchitis, Splenomegaly, Lymphadenopathy, Irritability ORPHA:117
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Anorexia, Orchitis, Splenomegaly, Leukocytosis, Thrombocytopenia, Lym... ORPHA:99827
Cherubism
Submandibular lymph node enlargement OMIM:118400
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Lymphopenia ORPHA:2136
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymphadenopathy, E... OMIM:181000
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy, Depression ORPHA:324625
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Anorexia, Aggressive behavior, Orchitis, Neutrophilia in presence o... ORPHA:99826
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Leukocytosis, Lymphadenopathy ORPHA:32960
Primary Sjögren Syndrome
Normocytic anemia, Thrombocytopenia, Lymphadenopathy, Depression, Leukopenia, Normochromic anemia... ORPHA:289390
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353281
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Kawasaki Disease
Leukocytosis, Irritability, Cervical lymphadenopathy ORPHA:2331
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland, Nodular goiter, Abnormal... ORPHA:79078
Familial Mediterranean Fever
Orchitis, Splenomegaly, Lymphadenopathy ORPHA:342
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100078
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Eosinophilia, Lymphadenopathy ORPHA:228123
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Sarcoidosis
Hemolytic anemia, Parotitis, Eosinophilia, Thrombocytopenia, Increased T cell count, Enlarged lac... ORPHA:797
Plague
Anorexia, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Depression ORPHA:707
Leptospirosis
Thrombocytopenia, Anorexia, Lymphadenopathy ORPHA:509
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Igg4-Related Ophthalmic Disease
Eosinophilia, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Lymphade... ORPHA:449563
African Trypanosomiasis
Aggressive behavior, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Irritability, Abnormal pr... ORPHA:3385
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... ORPHA:353277
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia OMIM:256040
Igg4-Related Kidney Disease
Eosinophilia, Lymphadenitis, Abnormality of the anterior pituitary, Lymphadenopathy, Sialadenitis ORPHA:449395
Blau Syndrome
Splenomegaly, Abnormal salivary gland morphology, Anemia, Lymphadenopathy ORPHA:90340

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 Ano2

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 Ano2.

No publications found that use IMPC mice or data for Ano2.

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
Ano2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ano2em1(IMPC)Ccpcz Exon Deletion Mice
Ano2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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