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Gene: Aars2 MGI:2681839

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Gene Summary

Name:
alanyl-tRNA synthetase 2, mitochondrial
Synonyms:
Aarsl

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased eosinophil cell number Aars2tm1(KOMP)Wtsi HET Early adult 2.54×10-14
abnormal vocalization Aars2tm1(KOMP)Wtsi HET   Early adult 1.20×10-05
preweaning lethality, complete penetrance Aars2tm1(KOMP)Wtsi HOM   Early adult 0.00
decreased red blood cell distribution width Aars2tm1(KOMP)Wtsi HET Early adult 9.38×10-06
increased neutrophil cell number Aars2tm1(KOMP)Wtsi HET   Early adult 1.87×10-05
increased basophil cell number Aars2tm1(KOMP)Wtsi HET Early adult 2.05×10-07
abnormal heart left ventricle morphology Aars2tm1(KOMP)Wtsi HET Early adult 3.79×10-07

Download data as:  TSV  XLS

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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 Aars2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Aars2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Leukoencephalopathy, Progressive, With Ovarian Failure
OMIM:615889

The table below shows human diseases predicted to be associated to Aars2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Eosinophilia, Myeloproliferative disorder, Sple... OMIM:607685
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Halothane Hepatitis
Eosinophilia OMIM:234350
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Kimura Disease
Eosinophilia ORPHA:482
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Loeffler Endocarditis
Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left... ORPHA:75566
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Atrial septal defect, Lymphopenia OMIM:614868
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Wells Syndrome
Eosinophilia ORPHA:901
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly OMIM:615387
Cinca Syndrome
Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly OMIM:607115
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Atrial septal defect, Macrocytic anemia, Neutropenia OMIM:612527
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Poik... OMIM:258900
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Eosinophilia OMIM:147060
Roifman Syndrome
Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricular septal defect OMIM:616651
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... OMIM:304790
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count OMIM:618394
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Cutaneous abscess, Atrial septal defect, Eosinophilia, Pulmonic stenosis OMIM:618282
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Eosinophilia ORPHA:2070
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro... OMIM:603554
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Hereditary Folate Malabsorption
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia ORPHA:90045
Omenn Syndrome
Anemia, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology ORPHA:39041
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:615285
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells OMIM:243700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... ORPHA:911
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia, Secundum atrial septal defect OMIM:223350
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... OMIM:602450
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... ORPHA:71275
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess OMIM:615816
Netherton Syndrome
Hypereosinophilia OMIM:256500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis OMIM:616959
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Myocarditis, Eosinophilia ORPHA:139402
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abnormal heart morphology, Eosinophilia, Abscess ORPHA:400
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... OMIM:102700
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Hypertrophic cardiomyopathy, Eosinophilia, Myocard... ORPHA:183
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bicuspid aortic valve, Bone marrow hypocellularity, Anemia of inadequate pro... OMIM:614900
Alveolar Echinococcosis
Abnormal pericardium morphology, Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abs... ORPHA:284
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, P... OMIM:618278
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Eosinophilia OMIM:158310
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Dilated... ORPHA:231226
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Absent circulating B cells, Hypertrophic cardiomyopathy, Decreased proportion ... OMIM:619705
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia ORPHA:199299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Dilated cardiomyopathy, Hepatosplenomegaly, Myocardial eosinophilic infiltr... ORPHA:3260
Scleroderma
Hypereosinophilia, Interstitial cardiac fibrosis, Myocarditis, Pericarditis ORPHA:801
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Mitral valve prolapse, Decreased proportion of CD8-positive... ORPHA:508533
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Anemia, Ventricular septal defect, Atrial septal defect, Hepatospl... OMIM:274000
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproliferative disorder... ORPHA:3226
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Brain abscess, Neutrophilia ORPHA:54251
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Coccidioidomycosis
Granuloma, Pericarditis, Eosinophilia, Abnormality of the spleen, Abscess ORPHA:228123
Adult-Onset Still Disease
Neutrophilia, Pericarditis, Bone marrow hypocellularity, Leukocytosis, Myocarditis, Splenomegaly ORPHA:829
Relapsing Fever
Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia ORPHA:91547
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Monocytosis, Thrombocytopenia OMIM:619644
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... ORPHA:906
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Congenital Erythropoietic Porphyria
Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... ORPHA:79277
Sarcoidosis
Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Eosinophilia, Thrombocytopenia ORPHA:797
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis OMIM:617099
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Dilate... ORPHA:3243
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia ORPHA:449395
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Viss Syndrome
Hypereosinophilia, Patent foramen ovale, Double outlet right ventricle, Coronary sinus enlargemen... OMIM:619472
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Abscess OMIM:612852
Cushing Disease
Leukocytosis, Decreased eosinophil count, Lymphopenia ORPHA:96253
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis OMIM:249100
Dermatomyositis
Pericarditis, Myocarditis, Abnormal eosinophil morphology ORPHA:221
Primary Sclerosing Cholangitis
Histiocytosis, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly ORPHA:171
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly OMIM:260920
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Decreased eosinophil count, Lymphopenia ORPHA:99889
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Leukoencephalopathy, Progressive, With Ovarian Failure
OMIM:615889

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 Aars2

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 Aars2.

No publications found that use IMPC mice or data for Aars2.

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MGI Allele Allele Type Produced
Aars2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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