C57BL/6JCya-Efcab5em1/Cya
Common Name:
Efcab5-KO
Product ID:
S-KO-18127
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Efcab5-KO
Strain ID
KOCMP-319634-Efcab5-B6J-VB
Gene Name
Product ID
S-KO-18127
Gene Alias
4930563A03Rik
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-Efcab5em1/Cya mice (Catalog S-KO-18127) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000108400
NCBI RefSeq
XM_017314601
Target Region
Exon 4~9
Size of Effective Region
~11.1 kb
Detailed Document
Overview of Gene Research
Efcab5, short for EF-hand calcium binding domain 5, likely plays a role in calcium-related functions considering its name indicates an EF-hand calcium-binding domain. Calcium-binding proteins are often involved in signal transduction pathways and various cellular processes, highlighting its potential importance in normal biological function [3].
In genetic studies, Efcab5 has been associated with multiple conditions. In a GWAS for assessing the brain glymphatic system (GS) function, Efcab5 was among 58 genes prioritized in DTI-ALPS index subtypes and associated with neurodegenerative diseases [1]. In whole-exome sequencing of biliary tract cancers in primary sclerosing cholangitis, Efcab5 was identified as one of the candidate cancer genes, suggesting its possible role in cancer development [2]. In a family with a monozygotic twin pair concordant for autism spectrum disorder (ASD), a truncating variation in Efcab5 was found, hinting at its potential role in the genetic etiology of ASD, at least in some patients [4]. In skin cutaneous melanoma, Efcab5 was significantly associated with prognosis, indicating its importance in this cancer [5].
In conclusion, Efcab5 is potentially involved in a range of biological processes related to neurodegenerative diseases, cancer, and ASD. Its associations with these disease conditions suggest that understanding its function could provide insights into the underlying disease mechanisms, potentially leading to new diagnostic or therapeutic strategies.
References:
1. Ran, Lusen, Fang, Yuanyuan, Cheng, Chang, Hao, Xingjie, Wang, Minghuan. 2025. Genome-wide and phenome-wide studies provided insights into brain glymphatic system function and its clinical associations. In Science advances, 11, eadr4606. doi:10.1126/sciadv.adr4606. https://pubmed.ncbi.nlm.nih.gov/39823331/
2. Grimsrud, Marit M, Forster, Michael, Goeppert, Benjamin, Roessler, Stephanie, Folseraas, Trine. 2024. Whole-exome sequencing reveals novel cancer genes and actionable targets in biliary tract cancers in primary sclerosing cholangitis. In Hepatology communications, 8, . doi:10.1097/HC9.0000000000000461. https://pubmed.ncbi.nlm.nih.gov/38967597/
3. Sani, Morteza Bitaraf, Roudbari, Zahra, Karimi, Omid, Shafei Naderi, Ali, Burger, Pamela Anna. 2022. Gene-Set Enrichment Analysis for Identifying Genes and Biological Activities Associated with Growth Traits in Dromedaries. In Animals : an open access journal from MDPI, 12, . doi:10.3390/ani12020184. https://pubmed.ncbi.nlm.nih.gov/35049806/
4. Egawa, Jun, Watanabe, Yuichiro, Sugimoto, Atsunori, Sugiyama, Toshiro, Someya, Toshiyuki. 2015. Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study. In Psychiatry research, 229, 599-601. doi:10.1016/j.psychres.2015.07.018. https://pubmed.ncbi.nlm.nih.gov/26189338/
5. Wang, Shaoxi, Wang, Qiaoqi, Zheng, Jiayu, He, Zhiyi, Chen, Quanfang. 2025. Clinical implications and molecular mechanism of long noncoding RNA LINC00518 and protein-coding genes in skin cutaneous melanoma by genome‑wide investigation. In Archives of dermatological research, 317, 454. doi:10.1007/s00403-025-03961-1. https://pubmed.ncbi.nlm.nih.gov/39987414/
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