PRJNA417002
RNA Splicing Factor Retinitis Pigmentosa
Inherited retinal degenerations (IRDs) are important causes of blindness that are characterized by progressive dysfunction and death of rod and cone photoreceptor cells leading to vision loss. Mutations in genes that encode the RNA splicing factors PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200 and RP9 are the second most common cause of dominant Retinitis Pigmentosa (RP).We are investigating RNA splicing factors dependent RP in mouse. We have developed knock-out mouse model of PRPF31. As in humans PRPF31-/- are embryonic lethal while PRPF31-/+ develop retinal dysfunction. Retina and brain samples were collected from heterozygouse and wild type littermates. Analysis of this data will allow us to identify the aberrant splicing events that lead to disease and identify targets for genetic therapeutics.