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Gene: Tab2 MGI:1915902

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
TGF-beta activated kinase 1/MAP3K7 binding protein 2
Synonyms:
1110030N06Rik,  Tak1 binding protein 2,  Map3k7ip2,  A530078N03Rik

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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 Tab2 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 Tab2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... OMIM:614980
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis ORPHA:228410

The table below shows human diseases predicted to be associated to Tab2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor ORPHA:75563
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Evans Syndrome
Epistaxis, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Breath-Holding Spells
Pallor OMIM:607578
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Splenomegaly, Congestive heart failure, Pallor ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice, Pallor OMIM:615631
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo... ORPHA:848
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276575
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Optic Atrophy 1
Pallor OMIM:165500
Hepatoportal Sclerosis
Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertensio... ORPHA:64743
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Pall... OMIM:266200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276580
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Skin ulcer, Pallor ORPHA:507
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Porta... ORPHA:824
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Jaundice, Splenomeg... ORPHA:231222
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis OMIM:194380
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration OMIM:615234
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival ble... ORPHA:98870
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest ORPHA:49827
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Splenomegaly, Intracranial hemorrhage, Pallor, Bruising su... ORPHA:3226
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Pallor OMIM:613839
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Pallor ORPHA:90033
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhyt... ORPHA:3386
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Pallor ORPHA:99931
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating alkaline phosphata... ORPHA:263455
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hepatomegaly, Congestive heart failure, Splenomegaly, Pallor ORPHA:75564
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Letterer-Siwe Disease
Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis ORPHA:822
Dominant Beta-Thalassemia
Hypersplenism, High-output congestive heart failure, Jaundice, Dilated cardiomyopathy, Splenomega... ORPHA:231226
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly ORPHA:300298
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas... ORPHA:33226
Rheumatic Fever
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia ORPHA:3099
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Bradycardia, Decreased live... ORPHA:90051
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
Beta-Thalassemia Major
Hepatomegaly, Hypersplenism, High-output congestive heart failure, Jaundice, Dilated cardiomyopat... ORPHA:231214
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Retinitis Pigmentosa 75
Pallor OMIM:617023
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:331206
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Dilate... ORPHA:20
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Dravet Syndrome
Pallor ORPHA:33069
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemic pallor, Hematochezia ORPHA:329971
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... OMIM:557000
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypertension, Pallor, Hypotension ORPHA:134
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, J... ORPHA:137675
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Pallor, Elevated total serum tryptase, Hypotension ORPHA:98849
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Tay-Sachs Disease
Pallor OMIM:272800
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pallor ORPHA:101096
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Transient ischemic attack, Cholangitis, Supraventricular arrhythmi... ORPHA:3260
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic melanin-like lyso... OMIM:208085
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Pallor ORPHA:35858
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Decreased fumarate hydratase activity, Pallor OMIM:606812
Childhood Absence Epilepsy
Pallor ORPHA:64280
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage OMIM:308300
Prolactinoma
Pallor, Hypotension ORPHA:2965
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Pallor, Pulmonary arterial hypertension, Bruising susceptibility ORPHA:667
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with ph... ORPHA:653
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... ORPHA:91347
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Anemic pallor OMIM:600901
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Pallor, Pancreatitis, Hypertensive crisis ORPHA:544482
Degcags Syndrome
Hepatomegaly, Tachycardia, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphology, Pallor, P... OMIM:619488
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Anemic pallor OMIM:227650
Fanconi Anemia, Complementation Group C
Bruising susceptibility, Anemic pallor OMIM:227645
Fanconi Anemia, Complementation Group D2
Annular pancreas, Bruising susceptibility, Anemic pallor OMIM:227646
Esophageal Atresia
Pallor ORPHA:1199
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation ORPHA:99776
Diamond-Blackfan Anemia 1
Congestive heart failure, Pallor, Tricuspid stenosis OMIM:105650
Diamond-Blackfan Anemia
Pallor, Elevated red cell adenosine deaminase activity ORPHA:124
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Dermal translucency, Biliary hyperplasia, Intrahepat... OMIM:619991
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricula... ORPHA:797
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congest... ORPHA:99125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Abnormal liver parenchyma morpholog... ORPHA:79318
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... OMIM:614980
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis ORPHA:228410

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 Tab2

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 Tab2.

No publications found that use IMPC mice or data for Tab2.

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MGI Allele Allele Type Produced
Tab2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tab2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tab2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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