C57BL/6JCya-C9orf72em1flox/Cya
Common Name
C9orf72-flox
Product ID
S-CKO-15649
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-73205-C9orf72-B6J-VA
Status
When using this mouse strain in a publication, please cite “C9orf72-flox Mouse (Catalog S-CKO-15649) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
C9orf72-flox
Strain ID
CKOCMP-73205-C9orf72-B6J-VA
Gene Name
Product ID
S-CKO-15649
Gene Alias
Dennd9, 3110043O21Rik
Background
C57BL/6JCya
Gene Full Name
C9orf72, member of C9orf72-SMCR8 complex
Modification
Conditional knockout
NCBI ID
Phenotype
Chromosome
Chr 4 (Mouse)
Application
--
Datasheet
Strain Description
Ensembl Transcript ID
ENSMUST00000108127
NCBI Transcript ID
NM_001081343
Target Region
Exon 4~5
Size of Effective Region
~1.9 kb
Overview of Gene Research
C9orf72, located on chromosome 9, encodes a 54-kDa protein with functions in multiple cellular processes such as autophagy, membrane trafficking, and immune response [3,4,5]. It forms a complex with SMCR8 and WDR41, potentially acting as a GTPase activating protein [3]. The hexanucleotide (G4C2) repeat expansion in C9orf72 is the major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) [1,2,3,4,5,6,7,8].
In mice, C9orf72 deficiency results in exaggerated inflammatory responses, indicating its role in regulating inflammatory outputs. Human patients with C9orf72 mutations also show a neuroinflammation phenotype. This suggests that C9orf72 may regulate trafficking and lysosomal degradation of inflammatory mediators like toll-like receptors (TLRs) and STING [5].
In conclusion, C9orf72 is crucial in multiple cellular processes and immune regulation. Studies on C9orf72 knockout or conditional knockout mouse models have provided insights into its role in the pathogenesis of ALS and FTD, highlighting its importance in understanding the mechanisms of these neurodegenerative diseases [5].
References：
1. Sellier, C, Corcia, P, Vourc'h, P, Dupuis, L. 2024. C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role? In Revue neurologique, 180, 417-428. doi:10.1016/j.neurol.2024.03.008. https://pubmed.ncbi.nlm.nih.gov/38609750/
2. Lai, Jesse D, Ichida, Justin K. 2019. C9ORF72 protein function and immune dysregulation in amyotrophic lateral sclerosis. In Neuroscience letters, 713, 134523. doi:10.1016/j.neulet.2019.134523. https://pubmed.ncbi.nlm.nih.gov/31568865/
3. Jiang, Lan, Zhang, Tizhong, Lu, Kefeng, Qi, Shiqian. 2021. The progress in C9orf72 research: ALS/FTD pathogenesis, functions and structure. In Small GTPases, 13, 56-76. doi:10.1080/21541248.2021.1892443. https://pubmed.ncbi.nlm.nih.gov/33663328/
4. Liu, Ying, Yu, Jin-Tai, Zong, Yu, Zhou, Jing, Tan, Lan. 2013. C9ORF72 mutations in neurodegenerative diseases. In Molecular neurobiology, 49, 386-98. doi:10.1007/s12035-013-8528-1. https://pubmed.ncbi.nlm.nih.gov/23934648/
5. Pang, Weilun, Hu, Fenghua. 2020. Cellular and physiological functions of C9ORF72 and implications for ALS/FTD. In Journal of neurochemistry, 157, 334-350. doi:10.1111/jnc.15255. https://pubmed.ncbi.nlm.nih.gov/33259633/
6. Torres, Paulina, Cabral-Miranda, Felipe, Gonzalez-Teuber, Vicente, Hetz, Claudio. 2021. Proteostasis deregulation as a driver of C9ORF72 pathogenesis. In Journal of neurochemistry, 159, 941-957. doi:10.1111/jnc.15529. https://pubmed.ncbi.nlm.nih.gov/34679204/
7. Xiao, Shangxi, MacNair, Laura, McLean, Jesse, Rogaeva, Ekaterina, Robertson, Janice. 2016. C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration. In Brain research, 1647, 43-49. doi:10.1016/j.brainres.2016.04.062. https://pubmed.ncbi.nlm.nih.gov/27134035/
8. Xu, Xingfeng, Su, Yan, Zou, Zhenyou, Zhou, Yali, Yan, Jianguo. 2021. Correlation between C9ORF72 mutation and neurodegenerative diseases: A comprehensive review of the literature. In International journal of medical sciences, 18, 378-386. doi:10.7150/ijms.53550. https://pubmed.ncbi.nlm.nih.gov/33390807/
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
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