Bckdk-KO

系統名

C57BL/6Smoc-Bckdkem1Smoc

SMOC番号

NM-KO-2101591

維持形態

Sperm cryopreservation

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遺伝子の概要

Gene Symbol
Bckdk

Synonyms

AI327402

NCBI ID

12041

MGI ID

1276121

Ensembl ID

ENSMUSG00000030802

Pubmed

Bckdk

Human Ortholog

BCKDK

説明

exon 9-12 of Bckdk gene was deleted to generate Bckdk knockout mice.

病気の予測

Autism Spectrum Disorder

表現型

MGI:5829468

参考文献

Tarlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G, Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell. 2016 Dec 01;167(6):1481-1494.e18

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

表現型

MGI:3699323

参考文献

Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG, Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7

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