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Gene: Kbtbd3 MGI:1916399

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Gene Summary

Name:
kelch repeat and BTB (POZ) domain containing 3
Synonyms:
2200003A07Rik,  Bklhd3

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IMPC Data Collections

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
increased neutrophil cell number Kbtbd3em1(IMPC)Ccpcz HOM Early adult 2.32×10-06
enlarged thymus Kbtbd3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Kbtbd3em1(IMPC)Ccpcz HOM Early adult 0.00

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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.

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Kbtbd3 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 Kbtbd3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular hyperplasia, He... OMIM:614470
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h... ORPHA:3226
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hypocellularity,... OMIM:301078
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Anemia, Liver abscess, Abnormal test... ORPHA:54251
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, Lymphadenopathy OMIM:619644
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Bone marrow hypocellularity ORPHA:829
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Leukocytosis OMIM:617099
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Neutrophilia, Splenomegaly OMIM:612852
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy OMIM:260920
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Sweet Syndrome
Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... ORPHA:3243
Familial Mediterranean Fever
Orchitis, Neutrophilia, Leukocytosis, Splenomegaly OMIM:249100
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferative disorder, ... ORPHA:3260
Proteus Syndrome
Ovarian neoplasm, Splenomegaly, Testicular neoplasm, Thymus hyperplasia, Enlarged polycystic ovar... ORPHA:744
Yellow Fever
Pancreatic hyperplasia, Thrombocytopenia, Neutrophilia, Leukocytosis ORPHA:99829

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 Kbtbd3

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 Kbtbd3.

No publications found that use IMPC mice or data for Kbtbd3.

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MGI Allele Allele Type Produced
Kbtbd3em1(IMPC)Ccpcz Inter-exon deletion Mice

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