C57BL/6JCya-Tbc1d23em1flox/Cya
Common Name:
Tbc1d23-flox
Product ID:
S-CKO-13767
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Tbc1d23-flox
Strain ID
CKOCMP-67581-Tbc1d23-B6J-VA
Gene Name
Product ID
S-CKO-13767
Gene Alias
4930451A13Rik; D030022P07Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
16
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tbc1d23em1flox/Cya mice (Catalog S-CKO-13767) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000023431
NCBI RefSeq
NM_026254
Target Region
Exon 3
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
Tbc1d23, a member of the Tre2-Bub2-Cdc16 (TBC) family, is a Golgi-localized protein. It plays a crucial role in endosome-to-Golgi cargo trafficking, acting as a bridge between Golgi-bound golgin-97/245 and the WASH/FAM21 complex on endosomal vesicles [3,4]. It is also involved in the LKB1-AMPK signaling axis at the Golgi, which controls cellular events like polarity, proliferation, and energy homeostasis [1]. Additionally, Tbc1d23 is associated with the pathogenesis of pontocerebellar hypoplasia (PCH), a neurodevelopment disorder [1,2,5,7,8].
In zebrafish models, depletion of Tbc1d23 leads to developmental defects similar to human PCH, including hindbrain volume loss, abnormal neuronal growth, and disrupted cortical neuron positioning [7,8]. Tbc1d23 deficiency can be rescued by Golgi-targeted expression of LKB1 in zebrafish, revealing its role in the LKB1-AMPK axis at the Golgi [1]. In mice, deletion of Tbc1d23 impairs the STING-IFN-I signaling, suggesting its role in innate immunity [6].
In conclusion, Tbc1d23 is essential for endosome-to-Golgi trafficking and the LKB1-AMPK signaling at the Golgi. Its study through animal models, especially zebrafish and mice, has provided insights into its role in PCH pathogenesis and innate immunity. Understanding Tbc1d23 functions may offer new perspectives for treating related neurodevelopmental disorders and immune-related conditions.
References:
1. Tu, Yingfeng, Yang, Qin, Tang, Min, Dai, Lunzhi, Jia, Da. 2024. TBC1D23 mediates Golgi-specific LKB1 signaling. In Nature communications, 15, 1785. doi:10.1038/s41467-024-46166-2. https://pubmed.ncbi.nlm.nih.gov/38413626/
2. Zhao, Lin, Deng, Huaqing, Yang, Qing, Billadeau, Daniel D, Jia, Da. 2023. FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH. In Proceedings of the National Academy of Sciences of the United States of America, 120, e2309910120. doi:10.1073/pnas.2309910120. https://pubmed.ncbi.nlm.nih.gov/37903274/
3. Liu, Dingdong, Yang, Fan, Liu, Zhe, Mo, Xianming, Jia, Da. 2020. Structure of TBC1D23 N-terminus reveals a novel role for rhodanese domain. In PLoS biology, 18, e3000746. doi:10.1371/journal.pbio.3000746. https://pubmed.ncbi.nlm.nih.gov/32453802/
4. Shin, John J H, Gillingham, Alison K, Begum, Farida, Chadwick, Jessica, Munro, Sean. 2017. TBC1D23 is a bridging factor for endosomal vesicle capture by golgins at the trans-Golgi. In Nature cell biology, 19, 1424-1432. doi:10.1038/ncb3627. https://pubmed.ncbi.nlm.nih.gov/29084197/
5. Huang, Wenjie, Liu, Zhe, Yang, Fan, Mo, Xianming, Jia, Da. 2019. Structural and functional studies of TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH. In Proceedings of the National Academy of Sciences of the United States of America, 116, 22598-22608. doi:10.1073/pnas.1909316116. https://pubmed.ncbi.nlm.nih.gov/31624125/
6. Wang, Jinrui, Niu, Shenghui, Hu, Xiao, Billadeau, Daniel D, Jia, Da. 2025. Trans-Golgi network tethering factors regulate TBK1 trafficking and promote the STING-IFN-I pathway. In Cell discovery, 11, 23. doi:10.1038/s41421-024-00763-z. https://pubmed.ncbi.nlm.nih.gov/40097395/
7. Marin-Valencia, Isaac, Gerondopoulos, Andreas, Zaki, Maha S, Barr, Francis A, Gleeson, Joseph G. 2017. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. In American journal of human genetics, 101, 441-450. doi:10.1016/j.ajhg.2017.07.015. https://pubmed.ncbi.nlm.nih.gov/28823706/
8. Ivanova, Ekaterina L, Mau-Them, Frédéric Tran, Riazuddin, Saima, van Bokhoven, Hans, Chelly, Jamel. 2017. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. In American journal of human genetics, 101, 428-440. doi:10.1016/j.ajhg.2017.07.010. https://pubmed.ncbi.nlm.nih.gov/28823707/
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