C57BL/6JCya-Dnajb13em1flox/Cya
Common Name:
Dnajb13-flox
Product ID:
S-CKO-19256
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Dnajb13-flox
Strain ID
CKOCMP-69387-Dnajb13-B6J-VB
Gene Name
Product ID
S-CKO-19256
Gene Alias
1700014P03Rik; Tsarg
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
7
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Dnajb13em1flox/Cya mice (Catalog S-CKO-19256) 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 thought to be involved in the assembly and stability of the axoneme during sperm flagellum development, and may participate in spermiogenesis and the motility of mature spermatozoa [4,5]. It is also expressed in several ciliated cell-containing tissues like the brain, lung, and oviduct [3,4].
In human studies, a novel c.106T>C mutation of DNAJB13 was found in nearly 10% of idiopathic 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]. A novel homozygous frameshift mutation c.335_336del [p.E112Vfs*3] in DNAJB13 was detected in a primary infertile male patient with abnormal sperm morphology, recurrent respiratory infections, and chronic cough. This mutation negatively affected DNAJB13 expression in spermatozoa, causing ultrastructural defects [2]. Mutations in DNAJB13 also cause primary ciliary dyskinesia (PCD) in humans. In vitro studies showed that a missense substitution (p.Met278Arg) in DNAJB13 led to protein instability and proteasomal degradation, and another mutation (c.68 + 1G>C) resulted in a splicing defect consistent with a loss-of-function mutation [6].
In conclusion, Dnajb13 plays a crucial role in sperm flagellar function, spermiogenesis, and the motility of mature spermatozoa. Mutations in Dnajb13 are associated with male infertility and primary ciliary dyskinesia, highlighting its importance in understanding the genetic basis of these conditions.
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