Gene Summary

Name:
potassium channel, subfamily K, member 13
Synonyms:
LOC381712,  F730021E22Rik,  THIK-1,  LOC380778

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 monocyte cell number Kcnk13em1(IMPC)H HOM Early adult 9.76×10-09
increased basophil cell number Kcnk13em1(IMPC)H HOM Early adult 2.04×10-07
increased red blood cell distribution width Kcnk13em1(IMPC)H HOM Early adult 5.92×10-06
increased mean corpuscular volume Kcnk13em1(IMPC)H HOM Early adult 3.98×10-05

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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.

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M-Mode Images

28 Images

Human diseases caused by Kcnk13 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 Kcnk13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Papular Xanthoma
Histiocytosis ORPHA:158008
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Immunodeficiency 88
Eosinophilia OMIM:619630
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... OMIM:615234
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis OMIM:611590
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... ORPHA:300298
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... ORPHA:811
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... OMIM:620565
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... ORPHA:79277
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia ORPHA:160
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Brain a... ORPHA:97214

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 Kcnk13

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 Kcnk13.

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MGI Allele Allele Type Produced
Kcnk13em2(IMPC)H Indel Mice
Kcnk13tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kcnk13tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kcnk13em1(IMPC)H Indel Mice

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