OMIA:002823-8030 : Follicle-stimulating hormone receptor deficiency in Salmo salar (Atlantic salmon) |
Categories: Reproductive system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 136435 (gene)
Single-gene trait/disorder: yes
Disease-related: no
Key variant known: yes
Year key variant first reported: 2024
Molecular basis: Andersson et al. (2024): "Using CRISPR-Cas9, we produced crispants with a high prevalence of fshr mutations at the target site, which remained fertile, although more than half showed a testis development deviating from wild-type (wt) males. Crossing out these F0 crispants to each other produced a viable F1 generation showing frameshift (fshr-/-) or in-frame mutations (fshrif/if). Nearly all wt males matured while all fshr-/- males remained immature with small testes containing A spermatogonia as the furthest developed germ cell type and prepubertal plasma androgen levels. ... More than half of the fshrif/if mutant males showed no, or a delayed maturation." This study involves genetically modified organisms (GMO).
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
fshr | follicle stimulating hormone receptor | Salmo salar | ssa28 | NC_059469.1 (8041176..8049258) | fshr | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002823-8030: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2024 | Andersson, E., Schulz, R.W., Almeida, F., Kleppe, L., Skaftnesmo, K.O., Kjærner-Semb, E., Crespo, D., Fjelldal, P.G., Hansen, T.J., Norberg, B., Edvardsen, R.B., Wargelius, A. : |
Loss of Fshr prevents testicular maturation in Atlantic salmon (Salmo salar L.). Endocrinology 165:bqae013, 2024. Pubmed reference: 38298132. DOI: 10.1210/endocr/bqae013. |
Edit History
- Created by Imke Tammen2 on 02 Feb 2024