Categories: Immune system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606416 (gene) , 120100 (trait) , 607115 (trait) , 191900 (trait)

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2020

Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).

Molecular basis: Li et al. (2020): "an NLRP3 gain-of-function pig model carrying a homozygous R259W mutation was generated by combining CRISPR/Cpf1-mediated somatic cell genome editing with nuclear transfer."

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

Clinical features: Li et al. (2020): "The newborn NLRP3 R259W homozygous piglets showed early mortality, poor growth, and spontaneous systemic inflammation symptoms, including skin lesion, joint inflammation, severe contracture, and inflammation-mediated multiorgan failure. Severe myocardial fibrosis was also observed. ... Notably, approximately half of the homozygous piglets grew up to adulthood and even gave birth to offspring. Although the F1 heterozygous piglets showed improved survival rate and normal weight gain, 39.1% (nine out of 23) of the piglets died early and exhibited spontaneous systemic inflammation symptoms.

Pathology: Li et al. (2020): The tissues of inflamed skins and several organs showed significantly increased expressions of NLRP3, Caspase-1, and inflammation-associated cytokines and factors (i.e., IL-1β, TNF-α, IL-6, and IL-17).

Breed: 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: