The PRPF31 gene, located on chromosome 19q13.4, encodes the PRP31 protein, a crucial component of the spliceosome, a large molecular machine essential for pre-mRNA splicing. This gene is ubiquitously expressed, meaning it is active in nearly all cell types and tissues throughout the body, as its function is fundamental to general cell metabolism and survival ^[1]. The encoded protein, also known as Protein 61K, plays a critical role in the assembly of the U4/U6·U5 tri-snRNP complex, a vital step in the splicing process ^[2].

Mutations in the PRPF31 gene are primarily associated with autosomal dominant retinitis pigmentosa (adRP), a progressive inherited retinal disease. Although the gene is expressed ubiquitously, the disease phenotype is retina-specific, with cellular labeling and studies showing that photoreceptor and retinal pigment epithelial (RPE) cells are the most affected, leading to their dysfunction and death ^[3]. This is often attributed to haploinsufficiency, where a single mutated copy of the gene is not sufficient to produce the necessary amount of functional protein, particularly in the retina which has a high demand for splicing activity ^[4].

The Prpf31 KO mouse is a knockout (KO) model in which the exon 4-5 of the mouse Prpf31 gene (homologous to the human PRPF31 gene) has been deleted via gene-editing technology. Homozygous knockout mice are lethal. This model can be used to study the pathogenic mechanisms of diseases such as autosomal dominant retinitis pigmentosa (adRP) and to provide a basis for developing related therapeutic strategies.