huPRPF31(2) Mouse
Product Name
huPRPF31(2) Mouse
Product ID
C001862
Strain Name
C57BL/6JCya-Prpf31tm1(hPRPF31)/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “huPRPF31(2) Mouse (Catalog C001862) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
PRPF31
Gene Alias
RP11, PRP31, SNRNP61, NY-BR-99
NCBI ID
Chromosome
Chr 19 (Human)
MGI ID
Datasheet
Strain Description
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 huPRPF31(2) mouse model was generated by replacing the sequences from 5'UTR to 3'UTR of the endogenous mouse Prpf31 gene with the sequences from 5'UTR to 3'UTR of the human PRPF31 gene. This model can be used to study the pathological mechanisms and therapeutic approaches for autosomal dominant retinitis pigmentosa (adRP), as well as for the development of PRPF31-targeted drugs.
Reference
Li J, Liu F, Lv Y, Sun K, Zhao Y, Reilly J, Zhang Y, Tu J, Yu S, Liu X, Qin Y, Huang Y, Gao P, Jia D, Chen X, Han Y, Shu X, Luo D, Tang Z, Liu M. Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing. Nucleic Acids Res. 2021 Feb 26;49(4):2027-2043.
Rose AM, Shah AZ, Waseem NH, Chakarova CF, Alfano G, Coussa RG, Ajlan R, Koenekoop RK, Bhattacharya SS. Expression of PRPF31 and TFPT: regulation in health and retinal disease. Hum Mol Genet. 2012 Sep 15;21(18):4126-37.
Aweidah H, Xi Z, Sahel JA, Byrne LC. PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation. Vision Res. 2023 Dec;213:108315.
Wheway G, Douglas A, Baralle D, Guillot E. Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy. Exp Eye Res. 2020 Mar;192:107950.
Strain Strategy
The sequences from 5'UTR to 3'UTR of the endogenous mouse Prpf31 gene were replaced with the sequences from 5'UTR to 3'UTR of the human PRPF31 gene. The mouse Tfpt gene may be affected by this strategy.
Figure 1. Diagram of the gene editing strategy for the generation of huPRPF31(2) mice.
Application Area
PRPF31-targeted drug screening, development, and evaluation;
Research on pathological mechanisms and therapeutic approaches for autosomal dominant retinitis pigmentosa (adRP).
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