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

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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 (257 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	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Immunodeficiency 88	Eosinophilia	OMIM:619630
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Kimura Disease	Eosinophilia	ORPHA:482
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Cinca Syndrome	Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly	OMIM:607115
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Wells Syndrome	Eosinophilia	ORPHA:901
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Roifman Syndrome	Splenomegaly, Eosinophilia	OMIM:616651
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia	ORPHA:2902
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia	OMIM:617388
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Eosinophilia, Cutaneous abscess	OMIM:618282
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Immunodeficiency 23	Hemolytic anemia, Abscess, Eosinophilia, Neutropenia, Lymphopenia	OMIM:615816
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Abnormal platelet count, Impaired ristocetin-indu...	OMIM:614201
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia	ORPHA:84064
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Increased mean platelet volume	OMIM:222470
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia	ORPHA:199299
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess	ORPHA:284
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Cystic Echinococcosis	Abscess, Eosinophilia, Peritoneal abscess, Splenic cyst	ORPHA:400
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c	OMIM:618858
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c	OMIM:609812
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro...	ORPHA:508533
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
Igg4-Related Pachymeningitis	Eosinophilia	ORPHA:449427
Incontinentia Pigmenti	Eosinophilia	ORPHA:464
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Coccidioidomycosis	Abnormality of the spleen, Granuloma, Abscess, Eosinophilia	ORPHA:228123
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Sarcoidosis	Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia	ORPHA:797
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Igg4-Related Ophthalmic Disease	Eosinophilia	ORPHA:449563
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Igg4-Related Kidney Disease	Eosinophilia	ORPHA:449395
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Kikuchi-Fujimoto Disease	Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Cushing Disease	Decreased eosinophil count, Leukocytosis, Lymphopenia	ORPHA:96253
Tropical Endomyocardial Fibrosis	Splenomegaly, Eosinophilia	ORPHA:75565
Primary Sclerosing Cholangitis	Splenomegaly, Histiocytosis, Abnormal eosinophil morphology, Hepatosplenomegaly	ORPHA:171
Viss Syndrome	Hypereosinophilia	OMIM:619472
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Cushing Syndrome Due To Ectopic Acth Secretion	Decreased eosinophil count, Leukocytosis, Lymphopenia	ORPHA:99889
Liver Disease, Severe Congenital	Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia	OMIM:619991

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.

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
Etaa1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Etaa1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Etaa1^{em1(IMPC)Marc}	Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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