C57BL/6JCya-Nup210lem1/Cya
Common Name:
Nup210l-KO
Product ID:
S-KO-18734
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Nup210l-KO
Strain ID
KOCMP-77595-Nup210l-B6J-VA
Gene Name
Product ID
S-KO-18734
Gene Alias
4930548O11Rik; R26-EGFP; Tg(Gt(ROSA)26Sor-EGFP)130910Eps
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
3
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nup210lem1/Cya mice (Catalog S-KO-18734) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000029548
NCBI RefSeq
NM_029937
Target Region
Exon 6
Size of Effective Region
~0.9 kb
Detailed Document
Overview of Gene Research
NUP210L, encoding a testis-specific nucleoporin, is likely involved in nuclear trafficking. It may be crucial for regulating nuclear trafficking during and/or before spermiogenesis, potentially impacting nuclear compaction in spermatozoa [2,4].
In a study of an infertile man, a homozygous loss-of-function variant in NUP210L led to highly uncondensed sperm nuclear DNA, while in Nup210l null allele mice, spermatozoa showed mild anomalies in head morphology and decreased motility, but normal nuclear compaction and histone removal [2,4]. This suggests that NUP210L alone may not block spermatid nuclear compaction. Additionally, in a TWAS in African-ancestry female participants, NUP210L was identified as a putative breast cancer susceptibility gene, with a stronger association with estrogen-receptor negative or triple-negative breast cancer [1]. It was also found among genes with differential methylation in young adults with tinnitus, and was highlighted as a potential mediator of the genetic correlation between major depressive disorders and anxiety and stress-related disorders [3,5].
In summary, NUP210L appears to be important for male fertility, potentially through its role in sperm nuclear compaction. Its association with breast cancer, tinnitus, and mental disorders indicates its significance in multiple disease areas. Mouse models have been valuable in understanding its function in male fertility, shedding light on the complex mechanisms underlying sperm development and the role of NUP210L in certain disease susceptibilities.
References:
1. Ping, Jie, Jia, Guochong, Cai, Qiuyin, Long, Jirong, Zheng, Wei. 2024. Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes. In Nature communications, 15, 3718. doi:10.1038/s41467-024-47650-5. https://pubmed.ncbi.nlm.nih.gov/38697998/
2. Al Dala Ali, Maha, Longepied, Guy, Nicolet, Aurore, Metzler-Guillemain, Catherine, Mitchell, Michael J. 2023. Spermatozoa in mice lacking the nucleoporin NUP210L show defects in head shape and motility but not in nuclear compaction or histone replacement. In Clinical genetics, 105, 364-375. doi:10.1111/cge.14468. https://pubmed.ncbi.nlm.nih.gov/38129135/
3. Bhatt, Ishan Sunilkumar, Garay, Juan Antonio Raygoza, Torkamani, Ali, Dias, Raquel. 2024. DNA Methylation Patterns Associated with Tinnitus in Young Adults-A Pilot Study. In Journal of the Association for Research in Otolaryngology : JARO, 25, 507-523. doi:10.1007/s10162-024-00961-2. https://pubmed.ncbi.nlm.nih.gov/39147981/
4. Arafah, Karim, Lopez, Fabrice, Cazin, Caroline, Guichaoua, Marie-Roberte, Ray, Pierre F. . Defect in the nuclear pore membrane glycoprotein 210-like gene is associated with extreme uncondensed sperm nuclear chromatin and male infertility: a case report. In Human reproduction (Oxford, England), 36, 693-701. doi:10.1093/humrep/deaa329. https://pubmed.ncbi.nlm.nih.gov/33332558/
5. Mei, Liwei, Gao, Yan, Chen, Min, Zhang, Dai, Yu, Hao. 2021. Overlapping common genetic architecture between major depressive disorders and anxiety and stress-related disorders. In Progress in neuro-psychopharmacology & biological psychiatry, 113, 110450. doi:10.1016/j.pnpbp.2021.110450. https://pubmed.ncbi.nlm.nih.gov/34634379/
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