Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
trinucleotide repeat containing 6a
Synonyms:
3110054G10Rik,  Tnrc6,  2010321I05Rik,  D130023A07Rik,  CAGH26

IMPC Data Collections

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

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.

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 Tnrc6a 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 Tnrc6a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Adult Myoclonic, 6
OMIM:618074

The table below shows human diseases predicted to be associated to Tnrc6a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Anemia, Splenomegaly ORPHA:46532
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume, Pallor OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Pallo... OMIM:615631
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Retinitis Pigmentosa 42
Pallor OMIM:612943
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 60
Pallor OMIM:613983
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
Optic Atrophy 9
Pallor OMIM:616289
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Pallor OMIM:613839
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia, Pallor, Skin ulcer ORPHA:848
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Po... ORPHA:824
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Elliptocytosis 1
Pallor, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia,... ORPHA:507
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Pal... ORPHA:1959
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Retinitis Pigmentosa 70
Pallor OMIM:615922
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Hb Bart'S Hydrops Fetalis
Pallor, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Pallor OMIM:611590
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Optic Atrophy 1
Pallor OMIM:165500
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Retinitis Pigmentosa 27
Pallor OMIM:613750
Autoimmune Hemolytic Anemia
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Retinitis Pigmentosa 73
Pallor OMIM:616544
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticulocytopenia, Dec... ORPHA:300298
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis OMIM:616959
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased red cell hemolysis by shear stress, Splenomegaly, Exercise-induced hemolysis, Increased... OMIM:194380
Hereditary Spherocytosis
Anemia, Splenomegaly, Pallor, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin... ORPHA:822
Myelofibrosis
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly OMIM:254450
Cold Agglutinin Disease
Pallor, Hemolytic anemia, Splenomegaly ORPHA:56425
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm... ORPHA:3226
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor OMIM:246400
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90033
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Refractory Anemia With Excess Blasts
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocyt... ORPHA:86839
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Cyclic Vomiting Syndrome
Pallor OMIM:500007
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia OMIM:246450
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatosplenomegaly, Pallor ORPHA:99931
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Petechiae, Anemia, Splenomegaly, Purpura, Thrombocytopenia, Pallor ORPHA:90051
Retinitis Pigmentosa 51
Pallor OMIM:613464
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Fumarase Deficiency
Polycythemia, Pallor OMIM:606812
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Fanconi Anemia, Complementation Group E
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Fanconi Anemia, Complementation Group I
Pallor, Neutropenia OMIM:609053
Irida Syndrome
Pallor ORPHA:209981
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
American Trypanosomiasis
Pallor, Splenomegaly ORPHA:3386
Fanconi Anemia, Complementation Group A
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Dravet Syndrome
Pallor ORPHA:33069
Retinitis Pigmentosa 75
Pallor OMIM:617023
Waldenström Macroglobulinemia
Normocytic anemia, Leukemia, Splenomegaly, Purpura, Pallor, Abnormality of neutrophils ORPHA:33226
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor ORPHA:329971
Beta-Ketothiolase Deficiency
Leukocytosis, Pallor, Thrombocytosis ORPHA:134
Fanconi Anemia, Complementation Group C
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227645
Senior-Loken Syndrome 8
Pallor OMIM:616307
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Pallor ORPHA:20
Rheumatic Fever
Pallor, Erythema ORPHA:3099
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Adenohypophysitis
Normochromic anemia, Pallor ORPHA:95512
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Pituitary Apoplexy
Normochromic anemia, Pallor ORPHA:95613
Panhypophysitis
Normochromic anemia, Pallor ORPHA:95513
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Sheehan Syndrome
Dry skin, Normochromic anemia, Pallor ORPHA:91355
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... ORPHA:3260
Incontinentia Pigmenti
Leukocytosis, Eosinophilia, Pallor, Erythema OMIM:308300
Fanconi Anemia, Complementation Group D2
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227646
Childhood Absence Epilepsy
Pallor ORPHA:64280
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Rare Circulatory System Disease
Pallor ORPHA:98028
Infection-Related Hemolytic Uremic Syndrome
Pallor, Leukocytosis, Hemolytic anemia, Thrombocytopenia ORPHA:544482
Prolactinoma
Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Degcags Syndrome
Leukopenia, Iron deficiency anemia, Congenital hypoplastic anemia, Anemia, Abnormal spleen morpho... OMIM:619488
Von Hippel-Lindau Disease
Polycythemia, Pallor ORPHA:892
Autosomal Recessive Malignant Osteopetrosis
Pallor, Anemia, Splenomegaly ORPHA:667
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Esophageal Atresia
Pallor ORPHA:1199
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Epilepsy, Familial Adult Myoclonic, 6
OMIM:618074

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 Tnrc6a

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 Tnrc6a.

No publications found that use IMPC mice or data for Tnrc6a.

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