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Gene: Asb2 MGI:1929743

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Gene Summary

Name:
ankyrin repeat and SOCS box-containing 2
Synonyms:
1110008E15Rik

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
decreased total body fat amount Asb2tm2b(KOMP)Wtsi HET Early adult 8.19×10-05
increased NK cell number Asb2tm2b(KOMP)Wtsi HET   Early adult 3.37×10-05
increased circulating aspartate transaminase level Asb2tm2b(KOMP)Wtsi HET Early adult 8.46×10-05
increased T cell number Asb2tm2b(KOMP)Wtsi HET   Early adult 3.22×10-05
decreased Ly6C-positive immature NK cell number Asb2tm2b(KOMP)Wtsi HET Early adult 1.40×10-11
decreased effector memory T-helper cell number Asb2tm2b(KOMP)Wtsi HET   Early adult 5.15×10-06
preweaning lethality, complete penetrance Asb2tm2b(KOMP)Wtsi HOM   Early adult 0.00
abnormal vitelline vasculature morphology Asb2tm2b(KOMP)Wtsi HOM E9.5 0.00
increased Ly6C-positive immature NK cell number Asb2tm2b(KOMP)Wtsi HET Early adult 8.51×10-26
increased Ly6C-positive mature NK cell number Asb2tm2b(KOMP)Wtsi HET Early adult 2.36×10-05
abnormal pericardium morphology Asb2tm2b(KOMP)Wtsi HOM E9.5 0.00
abnormal retina blood vessel morphology Asb2tm2b(KOMP)Wtsi HET Early adult 6.36×10-06
abnormal embryo size Asb2tm2b(KOMP)Wtsi HOM E9.5 0.00
increased dendritic cell number Asb2tm2b(KOMP)Wtsi HET   Early adult 4.92×10-05
pale yolk sac Asb2tm2b(KOMP)Wtsi HOM E9.5 0.00
increased CD4-positive, alpha-beta T cell number Asb2tm2b(KOMP)Wtsi HET Early adult 7.71×10-06
increased Ly6C-positive NK T cell number Asb2tm2b(KOMP)Wtsi HET   Early adult 6.41×10-05
embryonic growth retardation Asb2tm2b(KOMP)Wtsi HOM E9.5 0.00
increased eosinophil cell number Asb2tm2b(KOMP)Wtsi HET   Early adult 3.55×10-06

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote Ambiguous
Axial skeleton N/A heterozygote Ambiguous
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Femur pre-cartilage condensation N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Gut N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head mesenchyme N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart ventricle N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Intestine N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Meckel's cartilage N/A heterozygote Ambiguous
Mesonephros of female N/A heterozygote Ambiguous
Mesonephros of male N/A heterozygote Ambiguous
Metanephros N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nasal septum N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Notochord N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Outflow tract N/A heterozygote Ambiguous
Pancreas N/A heterozygote Ambiguous
N/A heterozygote Ambiguous
Pharynx N/A heterozygote Ambiguous
Chorioallantoic placenta N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Stomach N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Thoracic vertebral cartilage condensation N/A heterozygote Ambiguous
Tongue N/A heterozygote Ambiguous
Trachea N/A heterozygote Ambiguous
Trunk mesenchyme N/A heterozygote Ambiguous
Umbilical artery embryonic part N/A heterozygote Ambiguous
Umbilical vein embryonic part N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Urinary system N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
meckel's cartilage Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
placenta Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E9.5

Images

7 Images

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X-ray

XRay Images Forepaw

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

18 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

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X-ray

XRay Images Hind Leg and Hip

18 Images

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X-ray

XRay Images Skull Lateral Orientation

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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Human diseases caused by Asb2 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 Asb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency 88
Eosinophilia OMIM:619630
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:253600
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Cinca Syndrome
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... OMIM:607115
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Wells Syndrome
Eosinophilia, Cellulitis ORPHA:901
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Kimura Disease
Eosinophilia ORPHA:482
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... OMIM:617237
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Cellulitis ORPHA:3165
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... OMIM:241600
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblastic leukemia, ... ORPHA:486
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
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
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Eosinophilia OMIM:618523
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Acquired Partial Lipodystrophy
Lipoatrophy, Lymphocytosis ORPHA:79087
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:2902
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess OMIM:147060
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count OMIM:609981
Roifman Syndrome
Hip contracture, Splenomegaly, Retinal dystrophy, Eosinophilia OMIM:616651
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Roifman Syndrome
Hip contracture, Retinal dystrophy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... ORPHA:276
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Eosinophilia, Cutaneous abscess OMIM:618282
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ... ORPHA:2686
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:158048
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro... OMIM:617388
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia OMIM:615816
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... OMIM:301074
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Aspergillosis
Vitritis, Eosinophilia, Neutropenia ORPHA:1163
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
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Scarring, Eosinophilia, Retinal vascular proliferati... OMIM:308300
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Netherton Syndrome
Hypereosinophilia OMIM:256500
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Cellulitis ORPHA:2314
Cystic Echinococcosis
Eosinophilia, Abscess, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess ORPHA:400
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Ocular albinism, Hepatospl... OMIM:608233
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... OMIM:619632
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... ORPHA:199299
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, Elbow flexion contracture, T lym... ORPHA:508533
Igg4-Related Pachymeningitis
Abnormal optic nerve morphology, Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449427
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Incontinentia Pigmenti
Retinal detachment, Abnormal chorioretinal morphology, Abnormal dental enamel morphology, Camptod... ORPHA:464
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proport... ORPHA:221139
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess ORPHA:284
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Increased B cell count ORPHA:98813
Coccidioidomycosis
Eosinophilia, Abscess, Abnormal retinal morphology, Abnormality of the spleen, Atypical scarring ... ORPHA:228123
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... OMIM:617718
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Igg4-Related Ophthalmic Disease
Abnormal optic nerve morphology, Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449563
Sarcoidosis
Hemolytic anemia, Hypercalcemia, Eosinophilia, Scarring, Thrombocytopenia, Increased T cell count... ORPHA:797
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Cushing Disease
Dorsocervical fat pad, Optic nerve compression, Leukocytosis, Decreased eosinophil count, Lymphop... ORPHA:96253
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circu... ORPHA:247691
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... ORPHA:449395
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Abnormality of r... ORPHA:167
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia ORPHA:75565
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocytosis ORPHA:171
Viss Syndrome
Retinal detachment, Inguinal hernia, Hypereosinophilia, Umbilical hernia, Contracture of the prox... OMIM:619472
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia... ORPHA:50918
Cushing Syndrome Due To Ectopic Acth Secretion
Decreased eosinophil count, Leukocytosis, Lymphopenia, Dorsocervical fat pad ORPHA:99889
Dermatomyositis
Abnormal eosinophil morphology, Chondrocalcinosis, Cellulitis ORPHA:221
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Liver Disease, Severe Congenital
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... 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 Asb2

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 Asb2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Heart defects and embryonic lethality in Asb2 knock out mice correlate with placental defects. Cells & development (January 2021) Asb2tm2a(KOMP)Wtsi Asb2tm2b(KOMP)Wtsi 33993984

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
Asb2tm41925(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Asb2tm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Asb2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Asb2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Asb2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Asb2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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