Gene involved KIF3B
Mutation tested c.1000G>A (b-PRA)
Transmission mode : Autosomal recessive Age of onset : Between 2 and 5 months old
Publication : Cogné et al. (2020). Mutations in the kinesin-2 motor KIF3B cause an autosomal-dominant ciliopathy.
Gene involved CEP290
Mutation tested IVS50 + 9T>G (rdAc-PRA)
Transmission mode : Autosomal recessive Age of onset : Between 1 and 2 years old
Publication : Menotti-Raymond et al. (2007). Mutation in CEP290 discovered for cat model of human retinal degeneration.
Gene involved AIPL1
Mutation tested c.577C>T (PRA-pd)
Transmission mode : Autosomal recessive Age of onset : Between 1 and 4 months old
Publication : Lyons et al. (2016). Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7.