C57BL/6JCya-Tardbpem1flox/Cya
Common Name:
Tardbp-flox
Product ID:
S-CKO-17559
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Tardbp-flox
Strain ID
CKOCMP-230908-Tardbp-B6J-VC
Gene Name
Product ID
S-CKO-17559
Gene Alias
1190002A23Rik; TDP-43; Tdp43
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
4
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tardbpem1flox/Cya mice (Catalog S-CKO-17559) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000084125
NCBI RefSeq
NM_145556
Target Region
Exon 3~4
Size of Effective Region
~2.7 kb
Detailed Document
Overview of Gene Research
Tardbp, encoding the transactive response DNA binding protein of 43 kDa (TDP-43), is an intranuclear protein involved in RNA splicing, trafficking, and stabilization, thus regulating gene expression [2]. It also plays a role in alternative splicing regulation, for example, in ovarian cancer, Tardbp can regulate the alternative splicing of vascular endothelial growth factor (VEGF) via serine/arginine-rich splicing factor 1 (SRSF1), promoting ovarian cancer angiogenesis [3].
Mutations in Tardbp are associated with multiple neurodegenerative diseases. In Chinese patients with amyotrophic lateral sclerosis (ALS), the mutant frequency of Tardbp variants was 0.3% in a single-center study, and when combined with literature data, 1.4% in the Chinese population, with 7.0% in familial ALS (fALS) [1]. Different Tardbp mutations were associated with specific phenotypic features, such as different disease durations [1]. Also, Tardbp mutations have been found in semantic variant primary progressive aphasia (svPPA) associated with motor neuron disease (MND) [4], and a novel Tardbp missense mutation caused familial ALS with frontotemporal dementia and parkinsonism [5]. TDP-43 cytoplasmic inclusion bodies are a hallmark of ALS and a subset of frontotemporal lobar degeneration (FTLD), and TDP-43 inclusions are also found in Alzheimer's disease (AD), with AD patients having increased cognitive impairment when TDP-43 pathology is present [2].
In conclusion, Tardbp is crucial for RNA-related functions. Its mutations are significantly associated with neurodegenerative diseases like ALS, FTLD, and AD, as well as ovarian cancer. Understanding Tardbp's functions through research on its mutations helps in uncovering the pathogenesis of these diseases, providing potential directions for diagnosis and treatment.
References:
1. Li, Jinyue, Liu, Qing, Sun, Xiaohan, Cui, Liying, Zhang, Xue. 2022. Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature. In Journal of neurology, 269, 4204-4212. doi:10.1007/s00415-022-11042-w. https://pubmed.ncbi.nlm.nih.gov/35239007/
2. Meneses, Axel, Koga, Shunsuke, O'Leary, Justin, Bu, Guojun, Zhao, Na. 2021. TDP-43 Pathology in Alzheimer's Disease. In Molecular neurodegeneration, 16, 84. doi:10.1186/s13024-021-00503-x. https://pubmed.ncbi.nlm.nih.gov/34930382/
3. He, Yutian, OuYang, Zhenbo, Liu, Wenwen, Chen, Yu, Zhang, Qiushi. 2022. TARDBP promotes ovarian cancer progression by altering vascular endothelial growth factor splicing. In Oncogene, 42, 49-61. doi:10.1038/s41388-022-02539-9. https://pubmed.ncbi.nlm.nih.gov/36369320/
4. González-Sánchez, M, Puertas-Martín, V, Esteban-Pérez, J, Pérez-Martínez, D A, Villarejo-Galende, A. 2019. TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature. In Neurocase, 24, 301-305. doi:10.1080/13554794.2019.1581225. https://pubmed.ncbi.nlm.nih.gov/30773994/
5. Chen, Sheng, Zhou, Rui-Ling, Zhang, Wei, Liu, Chang-Yun, Zou, Zhang-Yu. 2021. Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism. In Neurobiology of aging, 107, 168-173. doi:10.1016/j.neurobiolaging.2021.05.017. https://pubmed.ncbi.nlm.nih.gov/34175147/
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