|
Symbol Name ID |
Pdhb
pyruvate dehydrogenase (lipoamide) beta MGI:1915513 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Abnormal CSF pyruvate family amino acid concentration |
Increased CSF lactate |
Abnormality of the nervous system |
Gliosis |
Basal ganglia gliosis |
Cerebellar gliosis |
Abnormal brain morphology |
Lateral ventricle dilatation |
Ventriculomegaly |
Polymicrogyria |
Basal ganglia cysts |
Basal ganglia necrosis |
Agenesis of corpus callosum |
Partial agenesis of the corpus callosum |
Hypoplasia of the corpus callosum |
Periventricular leukomalacia |
Cerebral atrophy |
Cerebellar cyst |
Intracranial cystic lesion |
Ataxia |
EEG with focal sharp waves |
EEG with focal spikes |
EEG with generalized sharp slow waves |
Hypsarrhythmia |
Intellectual disability, profound |
Drowsiness |
Dystonia |
Inability to walk |
Seizure |
Bilateral tonic-clonic seizure |
Infantile spasms |
| Disease(s) Associated with PDHB | ||||||||||||||||||||||||||||||||
| pyruvate decarboxylase deficiency |
| Mouse Phenotypes | abnormal neural tube morphology |
abnormal forebrain development |
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| Availability | Mouse Genotype | ||
| Pdhbem1(IMPC)Bay/Pdhbem1(IMPC)Bay | |||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 07/02/2024 MGI 6.13 |
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