C57BL/6JCya-Cfap410em1flox/Cya
Common Name:
Cfap410-flox
Product ID:
S-CKO-13939
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Cfap410-flox
Strain ID
CKOCMP-67884-Cfap410-B6J-VA
Gene Name
Product ID
S-CKO-13939
Gene Alias
1810043G02Rik; D10Jhu13e
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
10
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Cfap410em1flox/Cya mice (Catalog S-CKO-13939) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000105397
NCBI RefSeq
NM_026431
Target Region
Exon 3~4
Size of Effective Region
~2.1 kb
Detailed Document
Overview of Gene Research
CFAP410, also previously known as C21orf2, is a protein-coding gene. It localizes at the basal body of cilia/flagella and plays essential roles in ciliogenesis, neuronal development, and DNA damage repair [3,4]. Cilia are crucial organelles, and defects in their structure or function lead to ciliopathies, highlighting the importance of CFAP410 in maintaining normal cellular function.
Mutations in CFAP410 have been associated with various diseases. In nine patients from eight families, biallelic variants in CFAP410 were found, leading to retinal dystrophy, including cone-rod dystrophy and retinitis pigmentosa. Early-stage CFAP410-associated retinopathy shows tapetoretinal degeneration, often with double hyperautofluorescence rings, and posterior staphyloma [1]. In a cone-rod dystrophy patient, two compound heterozygous mutations in CFAP410 were identified, and in vitro studies suggested that these mutations affected cell cycle, protein stability, and ubiquitination levels [2]. A patient with a homozygous in-frame duplication in CFAP410 presented with cone-rod dystrophy, macular staphyloma, and short stature [5]. Additionally, in sixteen families, rare bi-allelic variants in CFAP410 caused early-onset non-syndromic retinal degenerations [6].
In conclusion, CFAP410 is essential for ciliogenesis and has implications in neuronal development and DNA damage repair. Studies on patients with CFAP410 mutations have revealed its role in various ciliopathies, particularly those related to retinal degeneration. Understanding CFAP410 provides insights into the mechanisms of these diseases, potentially guiding future treatment strategies.
References:
1. Li, Xueqing, Wang, Yingwei, Wang, Junwen, Wang, Panfeng, Zhang, Qingjiong. . Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy. In Investigative ophthalmology & visual science, 64, 44. doi:10.1167/iovs.64.15.44. https://pubmed.ncbi.nlm.nih.gov/38153748/
2. Yang, Shaoqing, Li, Ya, Yang, Lin, You, Ya, Lei, Bo. 2023. Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma. In Frontiers in medicine, 10, 1216427. doi:10.3389/fmed.2023.1216427. https://pubmed.ncbi.nlm.nih.gov/37901396/
3. Stadler, Alexander, De Liz, Laryssa V, Gabriel, Heloisa B, Sunter, Jack D, Dong, Gang. 2024. The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body. In Open biology, 14, 240128. doi:10.1098/rsob.240128. https://pubmed.ncbi.nlm.nih.gov/39255848/
4. Stadler, Alexander, Gabriel, Heloisa B, De Liz, Laryssa V, Sunter, Jack D, Dong, Gang. 2025. CFAP410 has a bimodular architecture with a conserved surface patch on its N-terminal leucine-rich repeat motif for binding interaction partners. In Frontiers in cell and developmental biology, 13, 1507470. doi:10.3389/fcell.2025.1507470. https://pubmed.ncbi.nlm.nih.gov/40018707/
5. Chiu, Ning, Lee, Winston, Liu, Pei-Kang, Tsai, Shawn H, Wang, Nan-Kai. 2021. A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature. In Ophthalmic genetics, 43, 378-384. doi:10.1080/13816810.2021.2010773. https://pubmed.ncbi.nlm.nih.gov/34915818/
6. Sangermano, Riccardo, Gupta, Priya, Price, Cherrell, Huckfeldt, Rachel M, Bujakowska, Kinga M. 2024. Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. In Research square, , . doi:10.21203/rs.3.rs-3871956/v1. https://pubmed.ncbi.nlm.nih.gov/38405922/
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