C57BL/6JCya-Bckdhbem1/Cya
Common Name
Bckdhb-KO
Product ID
S-KO-01210
Backgroud
C57BL/6JCya
Strain ID
KOCMP-12040-Bckdhb-B6J-VA
Status
When using this mouse strain in a publication, please cite “Bckdhb-KO Mouse (Catalog S-KO-01210) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Bckdhb-KO
Strain ID
KOCMP-12040-Bckdhb-B6J-VA
Gene Name
Product ID
S-KO-01210
Gene Alias
BCKDE1B, BCKDH E1-beta
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 9
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000190166
NCBI RefSeq
NM_199195
Target Region
Exon 4~5
Size of Effective Region
~0.5 kb
Overview of Gene Research
Bckdhb, encoding the E1β subunit of the mitochondrial branched-chain 2-ketoacid dehydrogenase (BCKD) enzyme complex, is crucial for the catabolism of branched-chain amino acids (BCAAs). This complex decarboxylates ketoacid derivatives of leucine, isoleucine, and valine, thus playing a vital role in amino acid metabolism [1,2].
A Bckdhb-/-mouse model recapitulates the severe human phenotype of maple syrup urine disease (MSUD), with early-neonatal symptoms leading to death during the first week of life and massive accumulation of MSUD biomarkers [1]. In two models of severe MSUD (Bckdhb-/-mice), a one-time postnatal injection of a dual-function recombinant adeno-associated virus serotype 9 vector delivering codon-optimized BCKDHA and BCKDHB prevented perinatal death, normalized growth, restored coordinated expression of BCKDHA and BCKDHB in multiple tissues, and stabilized MSUD biomarkers even with high protein ingestion [2].
In conclusion, Bckdhb is essential for the normal metabolism of BCAAs. The study of Bckdhb-/-mouse models has significantly advanced our understanding of the role of Bckdhb in MSUD, demonstrating its potential as a target for gene therapy in treating this inborn error of metabolism [1,2].
References:
1. Pontoizeau, Clément, Gaborit, Clovis, Tual, Nolan, Cavazzana, Marina, Schiff, Manuel. 2023. Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy. In Journal of inherited metabolic disease, 47, 41-49. doi:10.1002/jimd.12604. https://pubmed.ncbi.nlm.nih.gov/36880392/
2. Wang, Jiaming, Poskitt, Laura E, Gallagher, Jillian, Strauss, Kevin A, Wang, Dan. 2025. BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease. In Science translational medicine, 17, eads0539. doi:10.1126/scitranslmed.ads0539. https://pubmed.ncbi.nlm.nih.gov/40009698/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen
Contact Us
Connect with our experts for your custom animal model needs. Please fill out the form below to start a conversation or request a quote.
Cyagen values your privacy. We’d like to keep you informed about our latest offerings and insights. Your preferences:
You may unsubscribe from these communications at any time. See our Privacy Policy for details on opting out and data protection.
By clicking the button below, you consent to allow Cyagen to store and process the personal information submitted in this form to provide you the content requested.