C57BL/6JCya-Neflem1/Cya
Common Name:
Nefl-KO
Product ID:
S-KO-18852
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Nefl-KO
Strain ID
KOCMP-18039-Nefl-B6J-VA
Gene Name
Product ID
S-KO-18852
Gene Alias
CMT2E; NF-L; NF68; Nfl
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
14
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Neflem1/Cya mice (Catalog S-KO-18852) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000022639
NCBI RefSeq
NM_010910
Target Region
Exon 1~3
Size of Effective Region
~3.4 kb
Detailed Document
Overview of Gene Research
NEFL, encoding the neurofilament light chain protein, is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. It plays a crucial role in maintaining axonal integrity and function. Its levels in cerebrospinal fluid (CSF) and blood increase proportionally to the degree of axonal damage in various neurological disorders, making it a promising biomarker [1].
Pathogenic variants in NEFL cause different forms of Charcot-Marie-Tooth disease (CMT), including demyelinating, axonal and intermediate forms, with varying severity [3]. In a Taiwanese CMT cohort, NEFL mutations accounted for 1.8% of CMT patients, and some patients had additional central nervous system (CNS) involvement [4]. In two Italian families, CMT related to a specific NEFL mutation was associated with a mild, childhood-onset phenotype, along with new findings of cardiological and urinary dysfunctions [5].
In esophageal squamous carcinoma cells, NEFL overexpression promotes invasion and migration via the EGFR/AKT/S6 pathway [2]. Also, in breast cancer, NEFL mRNA level is a potential prognostic factor for early-stage patients, being down-regulated in lymph node metastases compared to primary tumors [6].
In children and adolescents with schizophrenia and bipolar disorder, serum NEFL levels are increased, indicating neuronal damage [7].
In conclusion, NEFL is essential for axonal function and its abnormal variants or expression are associated with multiple neurological and some non-neurological diseases. Studies on NEFL-related phenotypes and diseases contribute to understanding disease mechanisms and potentially developing new diagnostic and therapeutic strategies.
References:
1. Gaetani, Lorenzo, Blennow, Kaj, Calabresi, Paolo, Parnetti, Lucilla, Zetterberg, Henrik. 2019. Neurofilament light chain as a biomarker in neurological disorders. In Journal of neurology, neurosurgery, and psychiatry, 90, 870-881. doi:10.1136/jnnp-2018-320106. https://pubmed.ncbi.nlm.nih.gov/30967444/
2. Fan, Zhi-Lu, Yang, Li-Yan, Zhang, Na, Wang, Ming-Rong, Hao, Jia-Jie. . NEFL promotes invasion and migration of esophageal squamous carcinoma cells via the EGFR/AKT/S6 pathway. In Yi chuan = Hereditas, 44, 322-334. doi:10.16288/j.yczz.22-019. https://pubmed.ncbi.nlm.nih.gov/35437240/
3. Della Marina, Adela, Hentschel, Andreas, Czech, Artur, Kölbel, Heike, Roos, Andreas. . Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes. In Journal of neuromuscular diseases, 11, 625-645. doi:10.3233/JND-230230. https://pubmed.ncbi.nlm.nih.gov/38578900/
4. Chao, Hua-Chuan, Hsiao, Cheng-Tsung, Lai, Kuan-Lin, Liao, Yi-Chu, Lee, Yi-Chung. 2022. Clinical and genetic characterization of NEFL-related neuropathy in Taiwan. In Journal of the Formosan Medical Association = Taiwan yi zhi, 122, 132-138. doi:10.1016/j.jfma.2022.08.008. https://pubmed.ncbi.nlm.nih.gov/36031490/
5. Petrucci, Antonio, Lispi, Ludovico, Garibaldi, Matteo, Massa, Roberto, Santorelli, Filippo Maria. 2023. NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors. In European neurology, 86, 185-192. doi:10.1159/000529706. https://pubmed.ncbi.nlm.nih.gov/36809754/
6. Li, Xiao-Qing, Li, Lin, Xiao, Chun-Hua, Feng, Yu-Mei. 2012. NEFL mRNA expression level is a prognostic factor for early-stage breast cancer patients. In PloS one, 7, e31146. doi:10.1371/journal.pone.0031146. https://pubmed.ncbi.nlm.nih.gov/22319610/
7. Ceylan, Mehmet Fatih, Tural Hesapcioglu, Selma, Kanoğlu Yüksekkaya, Seda, Neşelіoğlu, Salim, Erel, Ozcan. 2023. Changes in neurofilament light chain protein (NEFL) in children and adolescents with Schizophrenia and Bipolar Disorder: Early period neurodegeneration. In Journal of psychiatric research, 161, 342-347. doi:10.1016/j.jpsychires.2023.03.027. https://pubmed.ncbi.nlm.nih.gov/37003244/
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