Gene Summary

Name:
GATA zinc finger domain containing 2B
Synonyms:
C430014D17Rik,  p66beta

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Gatad2btm1b(EUCOMM)Hmgu HET Early adult 3.93×10-05
decreased locomotor activity Gatad2btm1b(EUCOMM)Hmgu HET Early adult 6.01×10-05
increased monocyte cell number Gatad2btm1b(EUCOMM)Hmgu HET Early adult 1.02×10-05
increased mean corpuscular volume Gatad2btm1b(EUCOMM)Hmgu HET Early adult 1.67×10-05
preweaning lethality, complete penetrance Gatad2btm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Immunophenotyping

Panel B FCS file(s)

9 Images

Immunophenotyping

Panel A FCS file(s)

9 Images

Human diseases caused by Gatad2b 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 Gatad2b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gand Syndrome
OMIM:615074
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
ORPHA:363686

The table below shows human diseases predicted to be associated to Gatad2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Leukopenia, Acute myeloid leukemia, Refractory anemia OMIM:616871
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Spastic ataxia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethionine... OMIM:277410
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Ataxia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Methylcobalamin Deficiency Type Cble
Neutropenia, Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased m... ORPHA:2169
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... OMIM:611590
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce... OMIM:619644
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... ORPHA:86839
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... ORPHA:300298
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... OMIM:609628
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Ataxia, Increased mean corpuscular volume, Thrombocytopenia, Apl... OMIM:127550
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... OMIM:616959
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... ORPHA:811
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... OMIM:206200
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... ORPHA:231222
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... ORPHA:231226
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... ORPHA:231214
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... OMIM:618278
Eisenmenger Syndrome
Brain abscess, Hyperuricemia, Hypochromic microcytic anemia, Abnormal B-type natriuretic peptide ... ORPHA:97214
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... ORPHA:160
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
ORPHA:363686
Gand Syndrome
OMIM:615074

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 Gatad2b

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 Gatad2b.

No publications found that use IMPC mice or data for Gatad2b.

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MGI Allele Allele Type Produced
Gatad2btm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Gatad2btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gatad2btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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