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Gene: Etaa1 MGI:1915395

Gene Summary

Name:

Ewing tumor-associated antigen 1

Synonyms:

5730466H23Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased mean corpuscular hemoglobin	Etaa1^{em1(IMPC)Marc}	HOM	Early adult	3.33×10^-08
decreased mean corpuscular hemoglobin concentration	Etaa1^{em1(IMPC)Marc}	HOM	Early adult	8.39×10^-06
decreased hemoglobin content	Etaa1^{em1(IMPC)Marc}	HOM	Early adult	4.06×10^-08
increased lymphocyte cell number	Etaa1^{em1(IMPC)Marc}	HOM	Early adult	4.60×10^-06
increased eosinophil cell number	Etaa1^{em1(IMPC)Marc}	HOM	Early adult	8.72×10^-30
increased red blood cell distribution width	Etaa1^{em1(IMPC)Marc}	HOM	Early adult	8.15×10^-12
increased basophil cell number	Etaa1^{em1(IMPC)Marc}	HOM	Early adult	5.12×10^-40
increased mean platelet volume	Etaa1^{em1(IMPC)Marc}	HOM	Early adult	9.90×10^-07

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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.

Phenotype associated images not available

Human diseases caused by Etaa1 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.

Human diseases associated with Etaa1 (0 diseases)
Human diseases predicted to be associated with Etaa1 (234 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Etaa1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Eosinophilia, Familial	Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia	OMIM:131400
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Acute Myelomonocytic Leukemia	Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia	ORPHA:517
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ...	OMIM:187800
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A...	OMIM:202700
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis	OMIM:615193
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin	ORPHA:231393
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related	Macrothrombocytopenia	OMIM:613112
Sebastian syndrome	Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets	OMIM:605249
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Anemia, Steroid-responsive anemia	OMIM:618312
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Bleeding Disorder, Platelet-Type, 24	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc...	OMIM:619271
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo...	ORPHA:67044
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Macrothrombocytopenia and progressive sensorineural deafness	Thrombocytopenia, Giant platelets, Macrothrombocytopenia	OMIM:600208
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol...	OMIM:300835
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit...	ORPHA:86841
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis	OMIM:206200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets	OMIM:155100
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno...	OMIM:224120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ...	OMIM:615631
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
T-Cell Receptor-Alpha/Beta Deficiency	Hypereosinophilia	OMIM:615387
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:300448
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro...	ORPHA:521
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy...	ORPHA:3203
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia	ORPHA:157991
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Splenomegaly	OMIM:607685
Slc35A1-Cdg	Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules	ORPHA:238459
Fechtner syndrome	Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets	OMIM:153640
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Myh9-Related Disease	Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio...	ORPHA:182050
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Eosinophil Peroxidase Deficiency	Abnormal eosinophil morphology	OMIM:261500
Halothane Hepatitis	Eosinophilia	OMIM:234350
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia	ORPHA:231401
Bernard-Soulier Syndrome	Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets	OMIM:231200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He...	OMIM:300908
Kimura Disease	Eosinophilia	ORPHA:482
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Autoimmune Lymphoproliferative Syndrome	Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:601859
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Wells Syndrome	Eosinophilia	ORPHA:901
Candidiasis, Familial, 2	Hypereosinophilia	OMIM:212050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula...	OMIM:616860
Sitosterolemia 1	Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi...	OMIM:210250
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor...	OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Omenn Syndrome	Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ...	OMIM:603554
Cinca Syndrome	Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia	OMIM:607115
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Alpha-Thalassemia	Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin	ORPHA:846
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia	OMIM:243700
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope...	OMIM:614470
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,...	OMIM:169400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia	OMIM:610629
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb...	ORPHA:169154
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD...	OMIM:603909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Congenital Dyserythropoietic Anemia Type Iii	Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo...	ORPHA:98870
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,...	OMIM:618849
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Pancytopenia And Occlusive Vascular Disease	Thrombocytopenia, Leukopenia, Pancytopenia, Anemia	OMIM:167850
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo...	OMIM:258900
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Immunodeficiency 25	Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia	OMIM:610163
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane...	OMIM:304790
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ...	ORPHA:331206
Retinitis Pigmentosa And Erythrocytic Microcytosis	Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis	OMIM:616959
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Eosinophilia	OMIM:618282
Hereditary Folate Malabsorption	Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia	ORPHA:90045
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind...	OMIM:619130
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia	OMIM:618092
Omenn Syndrome	Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia	ORPHA:39041
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ...	ORPHA:98849
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Autosomal Dominant Severe Congenital Neutropenia	Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l...	ORPHA:486
Sickle Cell Anemia	Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a...	ORPHA:232
Immunodeficiency 60	Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly	OMIM:618394
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency 49	Lymphopenia, Eosinophilia	OMIM:617237
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eosinophilia	OMIM:147060
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm...	ORPHA:911
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive	Eosinophilia	OMIM:618523
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia	ORPHA:169160
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hepatosplenomegaly, Eosinophilia	OMIM:618999
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti...	OMIM:102700
Asplenia, Isolated Congenital	Thrombocytosis, Howell-Jolly bodies, Asplenia	OMIM:271400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul...	OMIM:618278
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Anemia, Splenomegaly	ORPHA:163596
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu...	OMIM:619041
Beta-Thalassemia	Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:848
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness	Reduced beta/alpha synthesis ratio	OMIM:609057
Roifman Syndrome	Hepatosplenomegaly, Eosinophilia	ORPHA:353298
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei...	ORPHA:274
Roifman Syndrome	Eosinophilia, Splenomegaly	OMIM:616651
Pgm3-Cdg	T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport...	ORPHA:443811
Thrombocytopenia 1	Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia	OMIM:313900
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly	OMIM:617388
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o...	ORPHA:231226
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Neutropenia, Abscess, Eosinophilia	OMIM:615816
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia	ORPHA:514
Wiskott-Aldrich Syndrome	Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce...	OMIM:301000
Polycythemia Vera	Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre...	OMIM:263300
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Cyclic Neutropenia	Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli...	ORPHA:2686
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Wiskott-Aldrich Syndrome, Autosomal Dominant	Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt...	OMIM:600903
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp...	OMIM:308240
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis	OMIM:141700
Lathosterolosis	Increased mean platelet volume, Anisopoikilocytosis, Acanthocytosis, Hepatosplenomegaly, Schistoc...	OMIM:607330
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ...	ORPHA:3261
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia	OMIM:603585
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Iga Pemphigus	Cutaneous abscess, Eosinophilia	ORPHA:555905
Drug Rash With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia	ORPHA:139402
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod...	OMIM:300751
Aspergillosis	Neutropenia, Eosinophilia	ORPHA:1163
Syndromic Diarrhea	Thrombocytosis, Lymphopenia, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly	ORPHA:84064
Cryohydrocytosis	Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly	OMIM:185020
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly	OMIM:617441
Trichohepatoenteric Syndrome 1	Thrombocytosis, Increased mean platelet volume	OMIM:222470
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp...	OMIM:608203
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,...	ORPHA:86843
Pyropoikilocytosis, Hereditary	Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis	OMIM:266140
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Eosinophilia, Macrocytic anemia	ORPHA:199299
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Spherocytosis, Type 5	Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly	OMIM:612690
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Elliptocytosis 3	Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis	OMIM:617948
Alveolar Echinococcosis	Cutaneous abscess, Abnormal spleen morphology, Anemia, Liver abscess, Eosinophilia	ORPHA:284
Cystic Echinococcosis	Peritoneal abscess, Splenic cyst, Abscess, Eosinophilia	ORPHA:400
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Erythrocytosis, Familial, 5	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 6	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:617980
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis	OMIM:102730
Beta-Thalassemia Intermedia	Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, I...	ORPHA:231222
Elliptocytosis 2	Reticulocytosis, Hemolytic anemia, Elliptocytosis	OMIM:130600
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Thrombocytopenia-Absent Radius Syndrome	Leukocytosis, Thrombocytopenia, Anemia, Hepatosplenomegaly, Eosinophilia	OMIM:274000
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Idiopathic Hypereosinophilic Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom...	ORPHA:3260
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c	OMIM:618858
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope...	ORPHA:79277
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Essential Thrombocythemia	Abnormal thrombocyte morphology, Abnormal platelet morphology, Acute leukemia, Splenomegaly	ORPHA:3318
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Solute carrier family 4 (anion exchanger), member 1	Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, ...	OMIM:109270
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportio...	ORPHA:508533
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,...	OMIM:260400
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c	OMIM:606176
Scleroderma	Hypereosinophilia	ORPHA:801
Igg4-Related Pachymeningitis	Eosinophilia	ORPHA:449427
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Beta-Thalassemia Major	Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o...	ORPHA:231214
Incontinentia Pigmenti	Eosinophilia	ORPHA:464
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:141750
Wiskott-Aldrich Syndrome	Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th...	ORPHA:906
Coccidioidomycosis	Abscess, Abnormality of the spleen, Granuloma, Eosinophilia	ORPHA:228123
Blackfan-Diamond Anemia	Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo...	ORPHA:124
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
X-Linked Lymphoproliferative Disease	Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc...	ORPHA:2442
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Sarcoidosis	Hemolytic anemia, Increased T cell count, Thrombocytopenia, Anemia, Leukopenia, Eosinophilia	ORPHA:797
Igg4-Related Kidney Disease	Eosinophilia	ORPHA:449395
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Igg4-Related Ophthalmic Disease	Eosinophilia	ORPHA:449563
Lead Poisoning	Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia	ORPHA:330015
Tropical Endomyocardial Fibrosis	Eosinophilia, Splenomegaly	ORPHA:75565
Kikuchi-Fujimoto Disease	Lymphocytosis, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia	ORPHA:50918
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221

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 Etaa1

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 Etaa1.

No publications found that use IMPC mice or data for Etaa1.

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MGI Allele	Allele Type	Produced
Etaa1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Etaa1^{em1(IMPC)Marc}	Exdel	Mice

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