C57BL/6JCya-Tbcdem1/Cya
Common Name:
Tbcd-KO
Product ID:
S-KO-17798
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tbcd-KO
Strain ID
KOCMP-108903-Tbcd-B6J-VB
Gene Name
Product ID
S-KO-17798
Gene Alias
2310057L06Rik; A030005L14Rik; mKIAA0988
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tbcdem1/Cya mice (Catalog S-KO-17798) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000103013
NCBI RefSeq
NM_029878
Target Region
Exon 15
Size of Effective Region
~1.0 kb
Detailed Document
Overview of Gene Research
Tbcd, short for tubulin-folding co-factor D, is one of five tubulin-specific chaperones. It plays a pivotal role in the assembly and disassembly of α/β-tubulin heterodimers, thus being crucial for microtubule assembly in all cells [2,3,4,5]. Microtubule dynamics, in which Tbcd is involved, is essential for various biological processes such as neuronal development and function, cell abscission, and centriologenesis [1,2,3].
Mutations in Tbcd have been associated with severe neurodegenerative disorders. In humans, biallelic Tbcd mutations can lead to early-onset progressive neurodegenerative encephalopathy, characterized by features like developmental regression, epilepsy, postnatal microcephaly, growth retardation, muscle weakness, respiratory failure, and brain atrophy with thin corpus callosum [2,3,4,5]. For instance, certain homozygous or compound heterozygous variants in Tbcd have been identified in patients with these conditions, and in vitro and in vivo experiments (using Drosophila melanogaster) have shown impaired binding of mutant TBCD proteins and loss of function, respectively [2].
In conclusion, Tbcd is essential for microtubule-related biological processes. The study of Tbcd mutations in human patients has revealed its significance in neurodegenerative disease conditions, highlighting the importance of Tbcd in maintaining normal neuronal function and development. Understanding Tbcd's role can potentially provide insights into the pathogenesis of these neurodegenerative disorders and offer directions for future therapeutic strategies.
References:
1. Fanarraga, Mónica López, Bellido, Javier, Jaén, Cristina, Villegas, Juan Carlos, Zabala, Juan Carlos. 2010. TBCD links centriologenesis, spindle microtubule dynamics, and midbody abscission in human cells. In PloS one, 5, e8846. doi:10.1371/journal.pone.0008846. https://pubmed.ncbi.nlm.nih.gov/20107510/
2. Miyake, Noriko, Fukai, Ryoko, Ohba, Chihiro, Saitsu, Hirotomo, Matsumoto, Naomichi. 2016. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. In American journal of human genetics, 99, 950-961. doi:10.1016/j.ajhg.2016.08.005. https://pubmed.ncbi.nlm.nih.gov/27666374/
3. Zhang, Yunjian, Zhang, Linmei, Zhou, Shuizhen. 2019. Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature. In Neuropediatrics, 51, 68-71. doi:10.1055/s-0039-1698423. https://pubmed.ncbi.nlm.nih.gov/31569255/
4. Tian, Di, Rizwan, Khan, Liu, Yi, Mao, Xiao, Shu, Li. 2019. Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features. In Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 40, 2325-2331. doi:10.1007/s10072-019-03979-0. https://pubmed.ncbi.nlm.nih.gov/31240573/
5. Chen, Chih-Ling, Lee, Chien-Nan, Chien, Yin-Hsiu, Chang, Tung-Ming, Lee, Ni-Chung. 2021. Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy. In Children (Basel, Switzerland), 8, . doi:10.3390/children8121140. https://pubmed.ncbi.nlm.nih.gov/34943336/
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