C57BL/6JCya-Nup210lem1flox/Cya
Common Name:
Nup210l-flox
Product ID:
S-CKO-16696
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Nup210l-flox
Strain ID
CKOCMP-77595-Nup210l-B6J-VA
Gene Name
Product ID
S-CKO-16696
Gene Alias
4930548O11Rik; R26-EGFP; Tg(Gt(ROSA)26Sor-EGFP)130910Eps
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
3
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nup210lem1flox/Cya mice (Catalog S-CKO-16696) 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 play a crucial role in regulating the process of spermiogenesis, potentially by controlling the entry of histone variants/transition proteins/protamines into the nucleus and the replacement of core histones [2].
In a study on an infertile man with uncondensed sperm heads and histone retention, a homozygous loss-of-function variant in NUP210L was identified [2]. Mouse models also provided insights. Mice with a homozygous transgene intronic insertion in Nup210l were infertile, and spermatozoa had mild anomalies in head morphology and decreased motility, though nuclear compaction and histone removal seemed unaffected [1]. Re-analyzing the patient's exome data, a rare, potentially pathogenic, heterozygous variant in nucleoporin gene NUP153 was found, and NUP210L and NUP153 were shown to colocalize at the caudal nuclear pole in elongating spermatids and spermatozoa in mouse and human [1].
In conclusion, Nup210l is essential for male fertility, as demonstrated by gene-knockout mouse models and human genetic studies. Its absence leads to sperm defects, highlighting its significance in spermatogenesis. Understanding Nup210l's function could potentially improve the genetic diagnosis of male infertility [1,2].
References:
1. 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/
2. 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/
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