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Symbol
Name
ID
L2hgdh
L-2-hydroxyglutarate dehydrogenase
MGI:2384968
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Infectious encephalitis
Spastic tetraparesis
Gliosis
Severe demyelination of the white matter
Corpus callosum atrophy
Leukoencephalopathy
Aplasia/Hypoplasia of the cerebellum
Cerebellar atrophy
Global brain atrophy
Abnormal pyramidal tract morphology
Neoplasm of the nervous system
Ataxia
Abnormality of extrapyramidal motor function
Abnormal pyramidal sign
Aphasia
Atypical behavior
Intellectual disability
Intellectual disability, progressive
Intellectual disability, severe
Developmental regression
Seizure
Disease(s) Associated with L2HGDH
L-2-hydroxyglutaric aciduria

Mouse Phenotypes
increased susceptibility to pharmacologically induced seizures
abnormal brain morphology
abnormal glial cell morphology
abnormal oligodendrocyte morphology
abnormal myelin sheath morphology
Availability Mouse Genotype
L2hgdhGt(DC0625)Wtsi/L2hgdhGt(DC0625)Wtsi

Contributing Projects:
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
04/23/2024
MGI 6.23
The Jackson Laboratory