Categories: Immune system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Inheritance: As reported by Wan et al. (2012): "The cumulative mortality in genotype AA (40.70%) and AB (52.73%) was significantly lower than that in genotype BB (71.43%) (P = 0.032). The result demonstrated that genotype AA and AB were resistant to GCRV, while genotype BB was susceptible."

Molecular basis: By sequencing a key candidate gene (a receptor for a range of viruses), Wan et al. (2012) discovered that resistance to grass carp reovirus is due to a 15-bp deletion in the coding region of the Ctenopharyngodon idella Retinoic acid-inducible gene I (CiRIG-I). As the authors reported: "The deletion mutation cancels a predicted phosphorylation site and changes the secondary structure and the probability of peroxisomal targeting signal 1 in CiRIG-I."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene: