Study of Gene-Targeted Mouse Models of Splicing Factor Gene<i>Prpf31</i>Implicated in Human Autosomal Dominant Retinitis Pigmentosa (RP)

Abstract

The results imply that Prpf31 is necessary for survival, and there is no compensation mechanism in mouse for the lack of this splicing factor. The authors suggest that p.A216P mutation in Prpf31 does not exert a dominant negative effect and that one Prpf31 wild-type allele is sufficient for maintenance of the healthy retina in mice.