Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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

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

Disease Similarity of
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Retinitis Pigmentosa 60
Pallor OMIM:613983
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Optic Atrophy 9
Pallor OMIM:616289
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Pallor, Splenomegaly ORPHA:75563
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Peripheral Cone Dystrophy
Pallor OMIM:609021
Evans Syndrome
Syncope, Petechiae, Epistaxis, Pallor, Bruising susceptibility, Jaundice ORPHA:1959
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Pallor, Splenomegaly OMIM:615234
Retinitis Pigmentosa 70
Pallor OMIM:615922
Breath-Holding Spells
Pallor OMIM:607578
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Elliptocytosis 1
Pallor, Splenomegaly, Jaundice OMIM:611804
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Pallor, Skin ... ORPHA:848
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Pallor, Splenomegaly, Jaundice OMIM:615631
Retinitis Pigmentosa 73
Pallor OMIM:616544
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Splenomegaly, Congestive heart failure, Pallor ORPHA:163596
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Pallor, Purpura, Splenomegaly OMIM:254450
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Diffuse pancreatic... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Focal pancreatic islet hyperplasia, Palpitati... ORPHA:276575
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pallor, Jaundice OMIM:613839
Senior-Loken Syndrome 8
Hepatic cysts, Pallor, Pancreatic cysts OMIM:616307
Retinitis Pigmentosa 27
Pallor OMIM:613750
Optic Atrophy 1
Pallor OMIM:165500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Diffuse pancreatic... ORPHA:276580
Hepatoportal Sclerosis
Hepatocellular carcinoma, Prolonged prothrombin time, Nodular regenerative hyperplasia of liver, ... ORPHA:64743
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... OMIM:603471
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Pallor, Tachycardia, Splenomegaly ORPHA:90037
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Hepatomegaly, Splenomegaly, Abnormal bleeding, Elevated hepatic transaminase, Pallor, Skin ulcer ORPHA:507
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor, Tachycardia ORPHA:276608
Primary Myelofibrosis
Ecchymosis, Hepatomegaly, Petechiae, Splenomegaly, Pallor, Hepatosplenomegaly, Increased circulat... ORPHA:824
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Pallor, Jaundice OMIM:194380
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Hepatomegaly, Palpitations, Tachycardia, Pallor ORPHA:324575
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Post-partum hemorrhage, Melena, Elevated hepatic transaminase, Pallor, Oral ca... ORPHA:98870
Beta-Thalassemia Intermedia
Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pulmonary arterial h... ORPHA:231222
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure ORPHA:49827
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Intracranial hemorrhage, Splenomegaly, Prolonged bleeding time, Pallor, Bruising su... ORPHA:3226
Autoimmune Hemolytic Anemia
Pallor, Arrhythmia, Congestive heart failure, Splenomegaly ORPHA:98375
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Jaundice ORPHA:90033
American Trypanosomiasis
Myocarditis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Congestive heart failure, Pallor, Arrhyt... ORPHA:3386
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Tachycardia, Pancreatic islet-cell hyperplasia,... ORPHA:263455
Non-Functioning Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Pallor, Hypertension associated with... ORPHA:94080
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Pallor, Heart murmur ORPHA:99931
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormal bleeding, Pallor ORPHA:75564
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor OMIM:611590
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Cholelithiasis, Splenomegaly, Pallor, Skin ulcer, Jaundice ORPHA:822
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... ORPHA:101330
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatic fibrosis, Hepatocellular carcinoma, Skin ulcer, Splenomegaly, Cir... ORPHA:231226
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Jaundice OMIM:246400
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hepatic steatosis, Abnormal enzyme/coenzyme activity, Elevated hepatic... ORPHA:348
Retinitis Pigmentosa 75
Pallor OMIM:617023
Rheumatic Fever
Myocarditis, Pericarditis, Epistaxis, Erythema, Pallor, Arrhythmia ORPHA:3099
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Hepatosplenomegaly, Pallor, Elevated hepatic iron concentration ORPHA:300298
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Tachycardia ORPHA:90036
Waldenström Macroglobulinemia
Hepatomegaly, Gingival bleeding, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Vasculitis... ORPHA:33226
Retinitis Pigmentosa 51
Pallor OMIM:613464
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Skin ulcer, Spl... ORPHA:231214
Sepsis In Premature Infants
Hepatomegaly, Petechiae, Tachycardia, Bradycardia, Splenomegaly, Decreased liver function, Purpur... ORPHA:90051
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Pallor, Splenomegaly OMIM:300908
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Fumarase Deficiency
Pallor, Cholestasis, Hepatic failure OMIM:606812
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Hepatomegaly, Prolonged prothrombin time, Lipid accumulation in hepatocyt... ORPHA:20
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Pallor, Hypertension associated with... ORPHA:276621
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Pallor ORPHA:331206
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemic pallor, Hematochezia ORPHA:329971
Dravet Syndrome
Pallor ORPHA:33069
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Hepatomegaly, Elevated total serum tryptase, Tachycardia, Splenomegaly, Pallor, Hypotension ORPHA:98849
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Anemic pallor, Retinal hemorrhage ORPHA:86839
Beta-Ketothiolase Deficiency
Hypertension, Pallor, Hepatomegaly, Hypotension ORPHA:134
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Histiocytoid Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricu... ORPHA:137675
Aregenerative Anemia
Abnormal bleeding, Pallor, Bruising susceptibility ORPHA:101096
Tay-Sachs Disease
Pallor OMIM:272800
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Pallor, Hypertension associated with... ORPHA:29072
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Cholangitis, Intracranial hemorrhage, Portal fibrosis, Vasculitis in the ... ORPHA:3260
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Pallor, Tachycardia ORPHA:35858
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Rare Circulatory System Disease
Pallor, Intermittent claudication ORPHA:98028
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Pancreatic cysts, Palpitations, Neoplasm of the pancreas, Cardiomyopat... ORPHA:892
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Dry skin, Pallor ORPHA:91355
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... ORPHA:456312
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Orthostatic hypotension, Pallor ORPHA:95512
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage OMIM:308300
Orthostatic hypotension, Pallor ORPHA:95513
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiac conduction abnormality, Cardiomyopathy, Pallor, Arrhythmia ORPHA:2131
Pallor, Hypotension ORPHA:2965
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Pulmonary arterial hypertension, Splenomegaly, Pallor, Bruising susceptibility ORPHA:667
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertensive crisis, Neoplasm of the liver, Pallor, Hypertension associated with ph... ORPHA:653
Abnormal liver lobulation OMIM:608022
Tsh-Secreting Pituitary Adenoma
Hypertension, Ventricular arrhythmia, Palpitations, Congestive heart failure, Pallor, Supraventri... ORPHA:91347
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Hypertensive crisis, Pancreatitis, Pallor ORPHA:544482
Degcags Syndrome
Hepatomegaly, Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis, Abnormal spleen mo... OMIM:619488
Fanconi Anemia, Complementation Group E
Anemic pallor, Bruising susceptibility OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor, Bruising susceptibility OMIM:227650
Diamond-Blackfan Anemia 1
Congestive heart failure, Pallor, Elevated red cell adenosine deaminase level, Tricuspid stenosis OMIM:105650
Fanconi Anemia, Complementation Group C
Anemic pallor, Bruising susceptibility OMIM:227645
Fanconi Anemia, Complementation Group D2
Anemic pallor, Bruising susceptibility, Annular pancreas OMIM:227646
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
Esophageal Atresia
Pallor ORPHA:1199
Blackfan-Diamond Anemia
Pallor, Elevated red cell adenosine deaminase level ORPHA:124
Abnormal cardiac ventricular function, Hepatomegaly, Ventricular tachycardia, Heart block, Abnorm... ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Hepatomegaly, Mitral regurgitation, Low-output congestive heart failur... ORPHA:99125
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Hepatic fibrosis, Abnormal li... ORPHA:79318
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Aortic valve stenosis, Atrial fibrillation, Left ventricular outflow tract ... OMIM:614980
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Arrhythmia, Tricuspid regurgitation, Pulmonic stenosis ORPHA:228410


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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