C57BL/6JCya-Tbcdem1flox/Cya
Common Name:
Tbcd-flox
Product ID:
S-CKO-17562
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tbcd-flox
Strain ID
CKOCMP-108903-Tbcd-B6J-VC
Gene Name
Product ID
S-CKO-17562
Gene Alias
2310057L06Rik; A030005L14Rik; mKIAA0988
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tbcdem1flox/Cya mice (Catalog S-CKO-17562) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000103013
NCBI RefSeq
NM_029878.4
Target Region
Exon 15
Size of Effective Region
~1.1 kb
Detailed Document
Overview of Gene Research
TBCD, short for tubulin-folding co-factor D, is one of five tubulin-specific chaperones. It is crucial for the proper folding and assembly of tubulin subunits, which are essential for microtubule formation. Microtubules play key roles in various cellular processes such as cell division, intracellular transport, and maintaining cell structure [1,2,3,4,5,6,7,8].
Mutations in TBCD have been associated with a range of neurodegenerative and neurodevelopmental disorders. In humans, biallelic TBCD mutations lead to early-onset progressive neurodegenerative encephalopathy, characterized by features like early-onset (before 1 year of age) progressive diffuse brain atrophy, postnatal microcephaly, growth retardation, muscle weakness, and respiratory failure [4]. Other phenotypes include distal motorneuronopathy, mild mental retardation, and corpus callosum hypoplasia [3]. In in vitro cell experiments, most mutant TBCD proteins showed impaired binding to ARL2, TBCE, and β-tubulin, and in vivo experiments using Drosophila melanogaster olfactory projection neurons indicated loss of function due to TBCD mutations [4].
In conclusion, TBCD is vital for microtubule assembly in all cells, with its disruption leading to severe neurodegenerative and neurodevelopmental conditions. Studies on TBCD-related mutations in humans provide insights into the pathomechanisms of these disorders, highlighting the importance of TBCD in maintaining normal neuronal function and development [1,3,4,5,6,7,8].
References:
1. Ocampo-Chih, Claudia, Dennis, Hailey, Lall, Neil, Verma, Sumit, Neira Fresneda, Juanita. 2022. PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused by a Novel Homozygous Variant in TBCD: A Case Series and Literature Review. In Pediatric neurology, 139, 59-64. doi:10.1016/j.pediatrneurol.2022.11.006. https://pubmed.ncbi.nlm.nih.gov/36527993/
2. 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/
3. Caputo, Maria, Martinelli, Ilaria, Fini, Nicola, Mandrioli, Jessica, Zucchi, Elisabetta. 2023. A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report. In International journal of molecular sciences, 24, . doi:10.3390/ijms241512386. https://pubmed.ncbi.nlm.nih.gov/37569761/
4. 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/
5. 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/
6. 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/
7. 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/
8. Ikeda, Toshio, Nakahara, Akihiko, Nagano, Rie, Tsuji, Shoji, Nunoi, Hiroyuki. 2016. TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. In Journal of human genetics, 62, 473-480. doi:10.1038/jhg.2016.149. https://pubmed.ncbi.nlm.nih.gov/27928163/
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