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.

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  • Created by Imke Tammen2 on 02 Feb 2024