C57BL/6JCya-Cltcem1/Cya
Common Name:
Cltc-KO
Product ID:
S-KO-18964
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Cltc-KO
Strain ID
KOCMP-67300-Cltc-B6J-VC
Gene Name
Product ID
S-KO-18964
Gene Alias
3110065L21Rik; CHC
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-Cltcem1/Cya mice (Catalog S-KO-18964) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000103186
NCBI RefSeq
NM_001003908
Target Region
Exon 2
Size of Effective Region
~0.2 kb
Detailed Document
Overview of Gene Research
Cltc, encoding the clathrin heavy chain protein, is crucial for clathrin-mediated endocytosis, a process by which cells internalize extracellular materials. This pathway is involved in various cellular functions such as receptor-mediated transport, signal transduction, and viral entry. Understanding Cltc's function is important for deciphering normal cellular processes and disease mechanisms [2,5].
De novo Cltc variants are associated with a wide range of phenotypes from mild to severe intellectual disability, often accompanied by microcephaly, hypoplasia of the corpus callosum, and epilepsy [1]. Novel Cltc variants have also been found to cause new brain and kidney phenotypes, including cystic lesions in the brain, high-echogenic kidneys, and kidney agenesis [3]. In osteosarcoma, high expression of Cltc is an independent prognostic factor, and its down-regulation has tumor-suppressive effects, interacting with TFG via the TGF-β and AKT/mTOR signaling pathways [4]. Additionally, knockout of the Cltc gene reduces but does not completely block SFTSV infection, indicating that clathrin-dependent and lipid raft-mediated endocytosis are major entry modes for SFTSV [2].
In conclusion, Cltc is essential for clathrin-mediated endocytosis and is involved in multiple biological processes. Research on Cltc, especially through gene knockout studies, has revealed its significance in neurodevelopmental disorders, viral infections, and cancer, providing insights into disease mechanisms and potential therapeutic targets.
References:
1. Nabais Sá, Maria J, Venselaar, Hanka, Wiel, Laurens, de Brouwer, Arjan P M, Koolen, David A. 2019. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. In Genetics in medicine : official journal of the American College of Medical Genetics, 22, 797-802. doi:10.1038/s41436-019-0703-y. https://pubmed.ncbi.nlm.nih.gov/31776469/
2. Liu, Tiezhu, Li, Jiajia, Wang, Xueqi, Wang, Shiwen, Liang, Mifang. 2023. Knockout of CLTC gene reduces but not completely block SFTSV infection. In PloS one, 18, e0285673. doi:10.1371/journal.pone.0285673. https://pubmed.ncbi.nlm.nih.gov/37624798/
3. Itai, Toshiyuki, Miyatake, Satoko, Tsuchida, Naomi, Mizuguchi, Takeshi, Matsumoto, Naomichi. 2021. Novel CLTC variants cause new brain and kidney phenotypes. In Journal of human genetics, 67, 1-7. doi:10.1038/s10038-021-00957-3. https://pubmed.ncbi.nlm.nih.gov/34230591/
4. Shijie, Li, Zhen, Pan, Kang, Qin, Qingcheng, Yang, Dongdong, Cheng. . Deregulation of CLTC interacts with TFG, facilitating osteosarcoma via the TGF-beta and AKT/mTOR signaling pathways. In Clinical and translational medicine, 11, e377. doi:10.1002/ctm2.377. https://pubmed.ncbi.nlm.nih.gov/34185412/
5. Bayati, Armin, Kumar, Rahul, Francis, Vincent, McPherson, Peter S. 2021. SARS-CoV-2 infects cells after viral entry via clathrin-mediated endocytosis. In The Journal of biological chemistry, 296, 100306. doi:10.1016/j.jbc.2021.100306. https://pubmed.ncbi.nlm.nih.gov/33476648/
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