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Gene: Kctd3 MGI:2444629

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Gene Summary

Name:
potassium channel tetramerisation domain containing 3
Synonyms:
4930438A20Rik,  NY-REN-45,  E330032J19Rik

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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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged urinary bladder Kctd3em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Kctd3em1(IMPC)Tcp HOM   Early adult 0.00
abnormal embryo size Kctd3em1(IMPC)Tcp HOM E15.5 0.00
decreased mean corpuscular hemoglobin Kctd3em1(IMPC)Tcp HET Early adult 8.68×10-06
abnormal eye morphology Kctd3em1(IMPC)Tcp HET Early adult 0.00
edema Kctd3em1(IMPC)Tcp HOM E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Gross Morphology Embryo E14.5-E15.5

Images

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

107 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Kctd3 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 Kctd3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Lipedema
Edema OMIM:614103
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
White Sponge Nevus 2
Edema OMIM:615785
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thrombocytopenia, Hepatomegaly ORPHA:848
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Lymphatic Malformation 10
Lymphedema OMIM:619369
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Ziegler-Huang Syndrome
Micropenis, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias OMIM:250790
Beta-Thalassemia Intermedia
Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 h... ORPHA:231222
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Hypospadias, HbH hemoglobin ORPHA:98791
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, Neut... OMIM:260400
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Glomerulonephritis, Leukemia, Pure red cell apl... ORPHA:99867
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Lead Poisoning
Chronic kidney disease, Imbalanced hemoglobin synthesis, Renal tubular dysfunction, Abnormal T ce... ORPHA:330015
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Hypoplasia of penis, Anemia, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hydronephrosis, Hypochromic microcytic anemia, Micropenis, Reduced alpha/beta syn... OMIM:301040
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Diamond-Blackfan Anemia 1
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... OMIM:105650
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Nephrolithiasis, Methemoglobinemia... ORPHA:56

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 Kctd3

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 Kctd3.

No publications found that use IMPC mice or data for Kctd3.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kctd3em1(IMPC)Tcp Exon Deletion Mice
Kctd3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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