Gene Summary

Name:
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
Synonyms:
2210412K19Rik,  2210403E04Rik,  alpha-ketoglutarate dehydrogenase,  d1401

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
preweaning lethality, complete penetrance Ogdhtm1e(KOMP)Wtsi HOM   Early adult 0.00
decreased erythrocyte cell number Ogdhtm1e(KOMP)Wtsi HET Early adult 2.12×10-06
decreased hemoglobin content Ogdhtm1e(KOMP)Wtsi HET Early adult 2.09×10-05
increased grip strength Ogdhtm1e(KOMP)Wtsi HET Early adult 3.65×10-05
decreased total body fat amount Ogdhtm1e(KOMP)Wtsi HET Early adult 1.15×10-07
decreased hematocrit Ogdhtm1e(KOMP)Wtsi HET Early adult 1.52×10-07
increased lean body mass Ogdhtm1e(KOMP)Wtsi HET Early adult 7.66×10-06

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

DSS Histology

Images

4 Images

Legacy Phenotype Associated Images

View all 180 images

Human diseases caused by Ogdh 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 Ogdh by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oxoglutarate Dehydrogenase Deficiency
OMIM:203740
Oxoglutaric Aciduria
ORPHA:31

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hemoglobin, Increased hematocrit OMIM:263400
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia ORPHA:848
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia, Flexion contracture ORPHA:98791
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight, Hiatus hernia, Umbilical hernia OMIM:619769
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Shwachman-Diamond Syndrome 1
Failure to thrive, Neutropenia, Small for gestational age, Persistence of hemoglobin F, Pancytope... OMIM:260400
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia ORPHA:99867
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... ORPHA:124
Lead Poisoning
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age ORPHA:330015
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Flexion contracture ORPHA:847
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia ORPHA:100076
Oxoglutaric Aciduria
ORPHA:31
Oxoglutarate Dehydrogenase Deficiency
OMIM:203740

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 Ogdh

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 Ogdh.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ogdhtm1e(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ogdhtm1e(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ogdhtm1e(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ogdhtm1e(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Ogdhtm1e(KOMP)Wtsi Targeted, non-conditional allele Mice, ES Cells
Ogdhtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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