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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
abnormal digit morphology Kbtbd3em1(IMPC)Ccpcz HOM Early adult 4.54×10-05
enlarged thymus Kbtbd3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Kbtbd3em1(IMPC)Ccpcz HOM Early adult 0.00
increased neutrophil cell number Kbtbd3em1(IMPC)Ccpcz HOM Early adult 2.69×10-06

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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 Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

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
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Neutropenia, Chronic Familial
Clubbing of fingers, Clubbing, Neutropenia OMIM:162700
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Sandal gap, Thrombocytopenia, Anemia, Brachydac... OMIM:617475
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hydrocele testis, Radioulnar synostosis, Congenital thrombocytopenia, Neutro... OMIM:616738
Microcephalic Primordial Dwarfism, Toriello Type
Short proximal phalanx of thumb, Short middle phalanx of toe, Short middle phalanx of finger, Sho... OMIM:251190
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Abnormal digit morpho... OMIM:614900
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Brachydactyly, Reduction of neutrophil motility, Short foot OMIM:266265
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Abnormal neutrophil count, Splenomeg... ORPHA:3226
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Abnormality of the lymph nodes, Anemia, Neutrophilia, Brain abscess, ... ORPHA:54251
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Talipes equinovarus, Arachnodactyly OMIM:619036
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Splenomegaly, Neutrophilia, Bone marrow hypocellularity ORPHA:829
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Splenomegaly ORPHA:2969
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Lymphadenopathy, Leukocytosis OMIM:617099
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Anemia, Sterile abscess, Neutro... ORPHA:3243
Hyper-Igd Syndrome
Leukocytosis, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy OMIM:260920
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Proteus Syndrome
Ovarian neoplasm, Abnormality of finger, Finger syndactyly, Sirenomelia, Macrodactyly, Macroorchi... ORPHA:744
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Clubbing, Anemia, Sp... ORPHA:3260
Leukocyte Adhesion Deficiency Type Ii
Overlapping toe, Microcytic anemia, Leukocytosis, Broad palm, Limb undergrowth, Anemia, Neutrophilia ORPHA:99843
Familial Mediterranean Fever
Neutrophilia, Splenomegaly, Orchitis, Leukocytosis OMIM:249100
Japanese Encephalitis
Neutrophilia, Talipes equinovarus, Elbow flexion contracture, Distal upper limb muscle weakness ORPHA:79139

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, Tissue

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