title: Review: the history and role of naturally occurring mouse models with Pde6b mutations.
abstract: Mouse models are useful tools for developing potential therapies for human inherited retinal diseases, such as retinitis pigmentosa (RP), since more strains are being identified with the same mutant genes and phenotypes as humans with corresponding retinal degenerative diseases. Mutations in the beta subunit of the human rod phosphodiesterase (PDE6B) gene are a common cause of autosomal recessive RP (arRP). This article focuses on two well-established naturally occurring mouse models of arRP caused by spontaneous mutations in Pde6b, their discovery, phenotype, mechanism of degeneration, strengths and limitations, and therapeutic approaches to restore vision and delay disease progression. Viral vector, especially adeno-associated viral vector (AAV) -mediated gene replacement therapy, pharmacological treatment, cell-based therapy and other approaches that extend the therapeutic window of treatment, is a potentially promising strategy for improving photoreceptor function and significantly slowing the process of retinal degeneration.
authors.affiliation: Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China.
authors.forename: Juanjuan
authors.initials: J
authors.lastname: Han
authors.affiliation: Department of Ophthalmology, University of Florida, Gainesville, FL.
authors.forename: Astra
authors.initials: A
authors.lastname: Dinculescu
authors.affiliation: Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China.
authors.forename: Xufeng
authors.initials: X
authors.lastname: Dai
authors.affiliation: Department of Ophthalmology, University of Florida, Gainesville, FL.
authors.forename: Wei
authors.initials: W
authors.lastname: Du
authors.affiliation: Department of Ophthalmology, University of Florida, Gainesville, FL.
authors.forename: W Clay
authors.initials: WC
authors.lastname: Smith
authors.affiliation: Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China ; Department of Ophthalmology, University of Florida, Gainesville, FL.
authors.forename: Jijing
authors.initials: J
authors.lastname: Pang
mesh_terms: D000256:Adenoviridae / Q000235:genetics; D000818:Animals; D064987:Cell- and Tissue-Based Therapy / Q000379:methods; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6 / Q000235:genetics*; D004195:Disease Models, Animal; D015870:Gene Expression; D015316:Genetic Therapy / Q000379:methods; D005822:Genetic Vectors; D006801:Humans; D051379:Mice; D009154:Mutation; D012160:Retina / Q000201:enzymology* / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000628:therapy*
chemical_list: D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517438:Pde6b protein, mouse