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Symbol
Name
ID
Got2
glutamatic-oxaloacetic transaminase 2, mitochondrial
MGI:95792
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Progressive microcephaly
Spastic paraparesis
Spastic tetraplegia
Hypoplasia of the corpus callosum
Cerebral atrophy
Cerebellar vermis hypoplasia
Absent speech
Delayed speech and language development
Intellectual disability, severe
Inability to walk
Seizure
Disease(s) Associated with GOT2
developmental and epileptic encephalopathy 82

Mouse Phenotypes
abnormal neural tube morphology
abnormal neural tube closure
abnormal forebrain development
abnormal hindbrain development
abnormal midbrain development
Availability Mouse Genotype
Got2em1(IMPC)Mbp/Got2em1(IMPC)Mbp

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