Morphological and Functional Comparison of Mice Models for Retinitis Pigmentosa.

Abstract

Retinitis pigmentosa (RP) is the predominant form of inherited retinal degenerations (IRDs) caused by abnormalities and loss of photoreceptor cells ensuing diminishment of vision. RP is a heterogenous genetic disorder associated with mutations in over 80 genes, showing various inheritance patterns. Laboratory mouse models are important for our understanding of disease mechanisms, modifier effects, and development of therapeutic modalities. In this review, we have summarized a comprehensive comparison of our previously reported Fam161a knockout (KO) mouse model with other well-studied RP mouse models, Fam161a, Pde6b, Nr2e3, Rpgr, and Pde6busing structural and functional analysis of the retina. Fam161amouse models are important for developing novel therapies and mainly AAV-based gene therapy and translational read-through-inducing drugs.