C57BL/6JCya-Dnajb13em1/Cya
Common Name:
Dnajb13-KO
Product ID:
S-KO-19113
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Dnajb13-KO
Strain ID
KOCMP-69387-Dnajb13-B6J-VA
Gene Name
Product ID
S-KO-19113
Gene Alias
1700014P03Rik; Tsarg
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
7
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Dnajb13em1/Cya mice (Catalog S-KO-19113) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000207405
NCBI RefSeq
NM_153527
Target Region
Exon 2
Size of Effective Region
~0.7 kb
Detailed Document
Overview of Gene Research
Dnajb13, a type II HSP40 family member, is highly expressed in the testis. It is an axonemal component of mouse mature spermatozoa, localized to the radial spokes of the '9+2' axoneme [3]. DNAJB13 is involved in sperm flagellar function, and may participate in spermiogenesis, sperm flagellum development, and the motility of mature spermatozoa [4,5].
In a study of 92 idiopathic asthenozoospermia patients and 200 men with normal fertility, a novel c.106T>C mutation of DNAJB13 was present in nearly 10% of the asthenozoospermia patients but absent in fertile men. Sperm from patients with this mutation had tail defects and reduced DNAJB13 protein levels, leading to immotility [1]. Another study identified a novel homozygous frameshift mutation of c.335_336del [p.E112Vfs*3] in DNAJB13 in a primary infertile male patient with teratozoospermia, which caused ultrastructural defects in his sperm [2]. Also, mutations in DNAJB13 have been found to cause primary ciliary dyskinesia (PCD) in humans, with affected individuals having recurrent respiratory-tract infections and most males being infertile due to sperm flagellar dysfunction [6].
In conclusion, Dnajb13 is crucial for sperm flagellar function, spermiogenesis, and sperm motility. Studies on DNAJB13 mutations in human patients have revealed its significance in male infertility and PCD. Understanding Dnajb13's function through these human-based genetic studies helps in comprehending the genetic mechanisms underlying male reproductive disorders and PCD.
References:
1. Li, W N, Zhu, L, Jia, M M, Lu, G X, Liu, G. 2019. Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia. In Andrology, 8, 299-306. doi:10.1111/andr.12685. https://pubmed.ncbi.nlm.nih.gov/31342671/
2. Liu, Mohan, Li, Jinhui, Jiang, Chuan, Yang, Yihong, Shen, Ying. 2022. A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia. In Journal of assisted reproduction and genetics, 39, 757-764. doi:10.1007/s10815-022-02431-1. https://pubmed.ncbi.nlm.nih.gov/35166991/
3. Guan, J, Ekwurtzel, E, Kvist, U, Hultenby, K, Yuan, L. . DNAJB13 is a radial spoke protein of mouse '9+2' axoneme. In Reproduction in domestic animals = Zuchthygiene, 45, 992-6. doi:10.1111/j.1439-0531.2009.01473.x. https://pubmed.ncbi.nlm.nih.gov/19919626/
4. Li, Weina, Liu, Gang. 2014. DNAJB13, a type II HSP40 family member, localizes to the spermatids and spermatozoa during mouse spermatogenesis. In BMC developmental biology, 14, 38. doi:10.1186/s12861-014-0038-5. https://pubmed.ncbi.nlm.nih.gov/25233908/
5. Guan, Jikui, Yuan, Li. . A heat-shock protein 40, DNAJB13, is an axoneme-associated component in mouse spermatozoa. In Molecular reproduction and development, 75, 1379-86. doi:10.1002/mrd.20874. https://pubmed.ncbi.nlm.nih.gov/18247331/
6. El Khouri, Elma, Thomas, Lucie, Jeanson, Ludovic, Touré, Aminata, Amselem, Serge. . Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. In American journal of human genetics, 99, 489-500. doi:10.1016/j.ajhg.2016.06.022. https://pubmed.ncbi.nlm.nih.gov/27486783/
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