Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
POU domain, class 2, transcription factor 1
Synonyms:
Oct-1B,  Oct-1z,  Otf-1,  oct-1,  Oct1,  Oct-1A,  Oct-1C,  2810482H01Rik,  Otf1

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 Pou2f1 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 Pou2f1 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
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... OMIM:615234
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Beta-Thalassemia
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Pallor, Anemia, Splenomegaly ORPHA:75563
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Retinitis Pigmentosa 42
Pallor OMIM:612943
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice OMIM:611804
Retinitis Pigmentosa 81
Pallor OMIM:617871
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice OMIM:613839
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Dermatitis, Atopic
Cataract, Facial erythema, Dry skin, Pallor, Keratoconus, Conjunctivitis OMIM:603165
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Retinitis Pigmentosa 60
Pallor OMIM:613983
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Portal hypertension, Hepatomegaly, Petechiae, Anemia, S... ORPHA:824
Microspherophakia-Metaphyseal Dysplasia
Lens coloboma, Microspherophakia, Lens subluxation OMIM:157151
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... ORPHA:83461
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... OMIM:610256
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal macrophag... ORPHA:507
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... ORPHA:231222
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Increas... ORPHA:822
Optic Atrophy 9
Pallor OMIM:616289
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Elevated hepatic transam... ORPHA:98870
Hemoglobin E Disease
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... ORPHA:2133
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocyto... ORPHA:1959
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Cold Agglutinin Disease
Pallor, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Pallor OMIM:611590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... ORPHA:300298
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Microphthalmia, Posterior embryotoxon, Microphakia, Sclerocorn... OMIM:612109
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Spondylo-Ocular Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation ORPHA:85194
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Retinitis Pigmentosa 70
Pallor OMIM:615922
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Autoimmune Hemolytic Anemia
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice OMIM:246400
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula... ORPHA:231214
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis OMIM:616959
Optic Atrophy 1
Pallor OMIM:165500
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Persistence of hemoglo... ORPHA:231226
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
Fanconi Anemia, Complementation Group G
Microphthalmia, Neutropenia, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Retinitis Pigmentosa 27
Pallor OMIM:613750
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis OMIM:187800
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Nail-Patella Syndrome
Lester's sign, Microphakia, Antecubital pterygium, Spina bifida, Cataract, Microcornea, Keratoconus OMIM:161200
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocyt... ORPHA:3226
Myelofibrosis
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly OMIM:254450
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, Co... OMIM:603552
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... ORPHA:331206
Retinitis Pigmentosa 73
Pallor OMIM:616544
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Pallor, Jaundice ORPHA:90033
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Congenital Rubella Syndrome
Hepatomegaly, Microphthalmia, Intrauterine growth retardation, Anemia, Aplasia/Hypoplasia of the ... ORPHA:290
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis, Cataract OMIM:606069
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia ORPHA:276575
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Normochromic anemia, C... ORPHA:98849
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Fetal Parvovirus Syndrome
Thrombocytopenia, Intrauterine growth retardation, Anemia ORPHA:295
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Pallor ORPHA:99931
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276580
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Hemochromatosis, Type 3
Neutropenia, Anemia, Cirrhosis, Purpura, Lymphopenia, Elevated hepatic transaminase OMIM:604250
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Transaldolase Deficiency
Anemia, Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Thrombocytopenia ORPHA:101028
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia, Petechiae OMIM:616216
Hyperlysinemia, Type I
Anemia, Ectopia lentis OMIM:238700
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Fanconi Anemia, Complementation Group I
Microphthalmia, Neutropenia, Intrauterine growth retardation, Optic nerve hypoplasia, Astigmatism... OMIM:609053
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary h... OMIM:612840
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Hepatomegaly, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Senior-Loken Syndrome 8
Hepatic cysts, Pallor, Pancreatic cysts OMIM:616307
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia ORPHA:3204
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Petechiae, Anemia, Splenomegaly, Decreased liver functio... ORPHA:90051
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Retinitis Pigmentosa 75
Pallor, Mixed astigmatism OMIM:617023
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Refractory Anemia With Excess Blasts
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocyt... ORPHA:86839
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Ectopia lentis, Iridodonesis, Microspherophakia, Striae distensae, Lack... OMIM:608328
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation ORPHA:485
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Otodental Syndrome
Lens coloboma, Microphthalmia, Iris coloboma, Cataract, Microcornea ORPHA:2791
Blackfan-Diamond Anemia
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... ORPHA:124
Fumarase Deficiency
Polycythemia, Pallor, Cholestasis, Hepatic failure OMIM:606812
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... ORPHA:905
American Trypanosomiasis
Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate prod... OMIM:300367
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Elevated hep... ORPHA:263455
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocytes, Anemia... ORPHA:20
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Histiocytoid Cardiomyopathy
Hepatomegaly, Microphthalmia, Congenital aphakia, Corneal opacity, Megalocornea, Pallor ORPHA:137675
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Anemia, Nodular regenerative hyperplasia of liver, Splenome... ORPHA:64743
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Leukemia, Splenomegaly, Purpura, Pallor, Abnormality of neutrophils ORPHA:33226
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Fanconi Anemia, Complementation Group E
Microphthalmia, Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Th... OMIM:600901
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia, Umbilical hernia OMIM:618914
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Retinitis Pigmentosa 51
Pallor OMIM:613464
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Fanconi Anemia, Complementation Group A
Microphthalmia, Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Th... OMIM:227650
Fanconi Anemia, Complementation Group C
Microphthalmia, Neutropenia, Anemic pallor, Intrauterine growth retardation, Leukemia, Anemia, Re... OMIM:227645
Weill-Marchesani Syndrome 1
Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis OMIM:277600
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor ORPHA:329971
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Intrauterine growth retardation, Stomatocytosis... ORPHA:71275
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphoc... OMIM:603554
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Neonatal death, Anemia, Intrauterine growth retardation OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Neonatal death, Anemia, Intrauterine growth retardation OMIM:618839
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Beta-Ketothiolase Deficiency
Leukocytosis, Pallor, Hepatomegaly, Thrombocytosis ORPHA:134
Incontinentia Pigmenti
Leukocytosis, Microphthalmia, Hypoplasia of the fovea, Erythema, Keratitis, Cataract, Eosinophili... OMIM:308300
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Pallor, Hepatomegaly ORPHA:348
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Intrauterine growth ret... OMIM:105650
Dravet Syndrome
Pallor ORPHA:33069
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Cholangitis, Portal fibrosis, Chronic hepatitis, Anemia, Pancreatit... ORPHA:3260
Pituitary Apoplexy
Mydriasis, Normochromic anemia, Pallor ORPHA:95613
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Adenohypophysitis
Normochromic anemia, Pallor ORPHA:95512
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Marfan Syndrome
Hypoplasia of the iris, Ectopia lentis, Microspherophakia, Striae distensae, Cataract, Astigmatism OMIM:154700
Fanconi Anemia, Complementation Group D2
Microphthalmia, Neutropenia, Anemic pallor, Annular pancreas, Leukemia, Anemia, Reticulocytopenia... OMIM:227646
Norrie Disease
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocor... ORPHA:649
Panhypophysitis
Normochromic anemia, Pallor ORPHA:95513
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Sheehan Syndrome
Dry skin, Normochromic anemia, Pallor ORPHA:91355
Interstitial Lung And Liver Disease
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Anemia, Cirrhosis, Hepatic steatosis, Elevated ci... OMIM:615486
Anemia, Congenital Dyserythropoietic, Type Iiia
Jaundice, Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Degcags Syndrome
Hepatomegaly, Microphthalmia, Intrauterine growth retardation, Leukopenia, Iron deficiency anemia... OMIM:619488
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Pallor ORPHA:29072
Phace Syndrome
Lens coloboma, Microphthalmia, Sclerocornea, Optic nerve hypoplasia, Iris coloboma, Heterochromia... ORPHA:42775
Childhood Absence Epilepsy
Pallor ORPHA:64280
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sponastrime Dysplasia
Microcoria, Intrauterine growth retardation, Neutropenia, Congenital aphakia, Cataract ORPHA:93357
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Pallor, Anemia, Splenomegaly ORPHA:667
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Petechiae, Anemia, Purpura, Reticuloc... ORPHA:2330
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Pancreatitis, Thrombocytopenia, Pallor ORPHA:544482
Rare Circulatory System Disease
Pallor ORPHA:98028
Von Hippel-Lindau Disease
Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pallor ORPHA:892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Cataract, Megalocornea, Opacification of t... OMIM:253280
Neuroocular Syndrome
Blue irides, Lens coloboma, Microphthalmia, Hypoplasia of the fovea, Stellate iris, Brushfield sp... OMIM:619539
Alternating Hemiplegia Of Childhood
Mydriasis, Pallor ORPHA:2131
Prolactinoma
Pallor ORPHA:2965
Multiple Endocrine Neoplasia Type 2
Prominent corneal nerve fibers, Pallor, Neoplasm of the liver ORPHA:653
Esophageal Atresia
Pallor ORPHA:1199
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125

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 Pou2f1

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 Pou2f1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Transcription factor Oct1 protects against hematopoietic stress and promotes acute myeloid leukemia. Experimental hematology (July 2019) Pou2f1tm1c(EUCOMM)Wtsi 31295506
T cell-selective deletion of Oct1 protects animals from autoimmune neuroinflammation while maintaining neurotropic pathogen response. Journal of neuroinflammation (July 2019) Pou2f1tm1c(EUCOMM)Wtsi PMC6607600
Oct1/Pou2f1 is selectively required for colon regeneration and regulates colon malignancy. PLoS genetics (May 2019) Pou2f1tm1c(EUCOMM)Wtsi PMC6522070
Enforcement of developmental lineage specificity by transcription factor Oct1. eLife (May 2017) Pou2f1tm1c(EUCOMM)Wtsi PMC5466424
Oct1 and OCA-B are selectively required for CD4 memory T cell function. The Journal of experimental medicine (October 2015) Pou2f1tm1c(EUCOMM)Wtsi Pou2f1tm1a(EUCOMM)Wtsi Pou2f1tm1d(EUCOMM)Wtsi PMC4647264

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MGI Allele Allele Type Produced
Pou2f1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pou2f1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pou2f1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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