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Symbol
Name
ID
Bckdk
branched chain ketoacid dehydrogenase kinase
MGI:1276121
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Autism
Intellectual disability
Seizure
Disease(s) Associated with BCKDK
branched-chain keto acid dehydrogenase kinase deficiency

Mouse Phenotypes
nervous system phenotype
seizures
tonic-clonic seizures
decreased brain weight
decreased miniature inhibitory postsynaptic current frequency
Availability Mouse Genotype
BckdkGt(OST79912)Lex/BckdkGt(OST79912)Lex *
BckdkGt(VICT48)710Lex/BckdkGt(VICT48)710Lex

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
05/28/2024
MGI 6.13
The Jackson Laboratory