C57BL/6JCya-Cfap74em1/Cya
Common Name:
Cfap74-KO
Product ID:
S-KO-10531
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Cfap74-KO
Strain ID
KOCMP-544678-Cfap74-B6J-VA
Gene Name
Product ID
S-KO-10531
Gene Alias
2010015L04Rik; A530045M11
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
4
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Cfap74em1/Cya mice (Catalog S-KO-10531) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000123952
NCBI RefSeq
NM_001166029
Target Region
Exon 2~5
Size of Effective Region
~4.6 kb
Detailed Document
Overview of Gene Research
Cfap74, also known as Cilia and Flagella Associated Protein 74, is involved in the proper functioning of cilia and flagella, playing a significant role in processes like mucociliary clearance and sperm motility. It is associated with pathways related to ciliary function, and its disruption can lead to various disorders [3].
Mutations in Cfap74 have been found to cause primary ciliary dyskinesia (PCD) with normal ciliary ultrastructure [1]. Pathogenic variants in Cfap74 also result in PCD with a defective C1d projection of the ciliary central apparatus, which is associated with normal situs, nasal nitric oxide production, ciliary ultrastructure, and ciliary beating, but still leads to chronic respiratory disease due to insufficient ciliary clearance [2]. Biallelic mutations in Cfap74 may cause human PCD and the multiple morphological abnormalities of the sperm flagella (MMAF) phenotype, highlighting its importance in these disorders [3]. In zebrafish models, knockdown of cfap74 led to abnormalities in cardiac looping and expression patterns of early signaling molecules, as well as impairments in Kupffer's vesicle organogenesis or ciliogenesis, suggesting its role in the establishment of laterality patterns [4].
In conclusion, Cfap74 is essential for the normal function of cilia and flagella, with its disruption leading to PCD and MMAF. The use of genetic models like zebrafish has provided insights into its role in laterality establishment. Understanding Cfap74's function contributes to the genetic diagnosis of related disorders and may help predict pregnancy outcomes in in vitro fertilization.
References:
1. Biebach, Luisa, Cindrić, Sandra, Koenig, Julia, Olbrich, Heike, Omran, Heymut. . Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure. In American journal of respiratory cell and molecular biology, 67, 409-413. doi:10.1165/rcmb.2022-0032LE. https://pubmed.ncbi.nlm.nih.gov/36047773/
2. Wohlgemuth, Kai, Hoersting, Niklas, Koenig, Julia, Dworniczak, Bernd, Omran, Heymut. 2024. Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus. In The European respiratory journal, 64, . doi:10.1183/13993003.00790-2024. https://pubmed.ncbi.nlm.nih.gov/39362668/
3. Sha, Yanwei, Wei, Xiaoli, Ding, Lu, Zhang, Xuequan, Lin, Shaobin. 2020. Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype. In Journal of human genetics, 65, 961-969. doi:10.1038/s10038-020-0790-2. https://pubmed.ncbi.nlm.nih.gov/32555313/
4. Liu, Sijie, Wei, Wei, Wang, Pengcheng, Sun, Kun, Xu, Rang. 2022. LOF variants identifying candidate genes of laterality defects patients with congenital heart disease. In PLoS genetics, 18, e1010530. doi:10.1371/journal.pgen.1010530. https://pubmed.ncbi.nlm.nih.gov/36459505/
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