Bckdk-KO

Nomenclature

C57BL/6Smoc-Bckdkem1Smoc

Cat. NO.

NM-KO-2101591

Strain State

Sperm cryopreservation

Export PDF

Gene Summary

Gene Symbol
Bckdk

Synonyms

AI327402

NCBI ID

12041

MGI ID

1276121

Ensembl ID

ENSMUSG00000030802

Pubmed

Bckdk

Human Ortholog

BCKDK

Model Description

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

Disease Connection

Autism Spectrum Disorder

Phenotype(s)

MGI:5829468

Reference(s)

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

Phenotype(s)

MGI:3699323

Reference(s)

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

You may also like

Shanghai Model Organisms Center Inc has licensed CRISPR-Cas9 technology from Broad Institute

On Dec 16, 2018, Broad Institute and Shanghai Model Organisms Center Inc (SMOC) has entered into a non-exclusive license agreement under which Broad has granted SMOC worldwide rights to commercialize a service platform for genetically modified mouse models under Broad's intellectual property.

Learn more
Customizing Mouse Models: Delivering in 100 Days to Speed Up Your Research!

At GenoBioTX, we understand that the lengthy wait times for gene-modified mouse models can hinder your research progress. Traditional methods often require 6-9 months, leading to delays and increased costs. That’s why we’re thrilled to introduce our innovative service designed to streamline this process and deliver results faster.

Learn more