Categories: Reproductive system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 603286 (gene) , 614842 (trait)

Links to MONDO diseases:

• MONDO:0013915: hypogonadotropic hypogonadism 13 with or without anosmia

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Species-specific description: Flórez et al. (2023) generated KISS1-edited pigs using CRISPR/Cas9 genome editing as an alternative to the need to surgically castrate pigs to avoid puberty-derived boar taint and aggressiveness: ".... four KISS1-edited pigs (two boars and two gilts) with disruptive allele frequencies of 96% and 100% demonstrated full hypogonadotropism, infantile reproductive tracts, and failed to reach sexual maturity." This phene includes references to studies involving gene edited or 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

Breeds: Duroc (Pig) (VBO_0001127), Yorkshire (Pig) (VBO_0001212).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: