OMIA:002703-9823 : Semen quality, SPAG6-related in Sus scrofa (pig)

Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605730 (gene)

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: no

Species-specific description: Bai et al. (2023): "SPAG6 c.900 T>C was associated with semen quality traits in Duroc, Large White and Landrace pigs, and the mutation could generate a new splice receptor site, inhibit the SPAG6 exon 7 skipping to a certain extent and reduce the expression of SPAG6-ES. Thus, the growth of Sertoli cells was promoted, and normal blood–testis barrier function was maintained."

Breeds: Duroc (Pig) (VBO_0001127), Landrace (Pig) (VBO_0001161), Large White (Pig) (VBO_0001163).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SPAG6 sperm associated antigen 6 Sus scrofa 10 NC_010452.4 (52571977..52496457) SPAG6 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002703-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Bai, R., Chen, D., Xiong, H., Song, H., Wang, T., Yang, X., Tang, J., Feng, Y., Li, J., Li, F. :
SPAG6 c.900 T>C affects boar semen quality and blood-testis barrier function by creating a new splice acceptor site. Anim Genet 54:446-456, 2023. Pubmed reference: 37211688. DOI: 10.1111/age.13330.
2015 Fischer, D., Laiho, A., Gyenesei, A., Sironen, A. :
Identification of reproduction-related gene polymorphisms using whole transcriptome sequencing in the Large White pig population. G3 (Bethesda) 5:1351-60, 2015. Pubmed reference: 25917919. DOI: 10.1534/g3.115.018382.
Song, H., Zhu, L., Li, Y., Ma, C., Guan, K., Xia, X., Li, F. :
Exploiting RNA-sequencing data from the porcine testes to identify the key genes involved in spermatogenesis in Large White pigs. Gene 573:303-9, 2015. Pubmed reference: 26192463. DOI: 10.1016/j.gene.2015.07.057.

Edit History

  • Created by Imke Tammen2 on 23 May 2023