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Gene: Bckdha MGI:107701

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Gene Summary

Name:
branched chain ketoacid dehydrogenase E1, alpha polypeptide
Synonyms:
BCKAD E1[a]

Order Alleles

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
small seminal vesicle Bckdhaem1(IMPC)Tcp HET Early adult 0.00
increased neutrophil cell number Bckdhaem1(IMPC)Tcp HET Early adult 2.05×10-16
preweaning lethality, complete penetrance Bckdhaem1(IMPC)Tcp HOM   Early adult 0.00
decreased lymphocyte cell number Bckdhaem1(IMPC)Tcp HET Early adult 4.69×10-15

Download data as:  TSV  XLS

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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.

Gross Morphology Embryo E14.5-E15.5

Images

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MicroCT E14.5-E15.5

Embryo reconstruction

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

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Human diseases caused by Bckdha 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.

The table below shows human diseases associated to Bckdha by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maple Syrup Urine Disease
OMIM:248600

The table below shows human diseases predicted to be associated to Bckdha by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Immunodeficiency 24
Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Cervical intraepithelial neoplasia, Reduced natural ki... OMIM:614172
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased ... OMIM:617514
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:615285
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... OMIM:614470
Immunodeficiency 95
Lymphopenia OMIM:619773
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis, Neutropenia OMIM:616738
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Hemochromatosis, Type 3
Neutropenia, Hypogonadotropic hypogonadism, Lymphopenia, Anemia OMIM:604250
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia OMIM:612527
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... OMIM:226990
Immunodeficiency 44
Lymphopenia OMIM:616636
Systemic Lupus Erythematosus 17
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia OMIM:301080
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Neutrophilia, Abnormal testis morphology, Brain abscess ORPHA:54251
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, T lymphocytopenia ORPHA:277
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... OMIM:300835
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... ORPHA:486
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Lymphopenia, Reduced natural killer cell count, Decreased... OMIM:619510
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... OMIM:616005
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... OMIM:617237
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of... OMIM:242700
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Acute leukemia, Abnormal neutrophil ... ORPHA:3226
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Pancytopenia, Lymphopenia OMIM:619767
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Eosinophilia, B lymphocytopenia, Abnormally low T cell recept... OMIM:602450
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Lymphopenia, Neutropenia, Cutaneous abscess, Reduced natural killer cell count OMIM:619752
Mirage Syndrome
Decreased testicular size, Cryptorchidism, Hypoplastic spleen, Leukopenia, Shawl scrotum, Anemia,... OMIM:617053
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia ORPHA:169160
Pgm3-Cdg
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Decreased pro... ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced natural killer cell count, Dec... ORPHA:276
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cyclic neutropenia, ... ORPHA:2686
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutrophilia ORPHA:91547
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Hemolytic anemia, Impaired oxidative burst, Abscess, Granuloma, Lymphopenia, ... OMIM:618935
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absen... OMIM:600802
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Macrocephaly/Autism Syndrome
Hydrocele testis, Penile freckling, Lymphopenia, Splenomegaly OMIM:605309
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural ki... ORPHA:35078
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hypoplasia of the thymus, Cryptorchidism, Intermittent thrombocytopenia, Leuk... OMIM:612541
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Neutropenia ORPHA:508542
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Severe B lymphocytopenia... OMIM:102700
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Reticulocytosis, Abnormal proportion of CD4... ORPHA:3261
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile abscess, Neutrophilia, Acute myeloid le... ORPHA:3243
Whim Syndrome
Lymphopenia, Parotitis, Abnormality of neutrophil morphology, Cervix cancer, Neutropenia ORPHA:51636
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p... OMIM:301000
Familial Mediterranean Fever
Neutrophilia, Orchitis, Leukocytosis, Splenomegaly OMIM:249100
Maple Syrup Urine Disease
OMIM:248600

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 Bckdha

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 Bckdha.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice. Nature communications (June 2022) Bckdhaem1(IMPC)Tcp PMC9174284
BCAA catabolism in brown fat controls energy homeostasis through SLC25A44. Nature (August 2019) Bckdhatm1a(EUCOMM)Hmgu 31435015

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MGI Allele Allele Type Produced
Bckdhaem1(IMPC)Tcp Exon Deletion Mice
Bckdhatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bckdhatm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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