Abstract
AbstractRetinitis pigmentosa (RP; OMIM 268,000) is a group of retina degenerative diseases with chronic, progressive degeneration of retinal pigmented epithelium and photoreceptors, with about 2.5 million people affected worldwide. Being highly genetic heterogeneous, RP exhibits various clinical phenotypes. Cyclic nucleotide gated (CNG) channel is involved in the visual photo‐transduction upon hyperpolarizing the rod photoreceptor. CNG family comprises six homologous members in mammals, A‐type subunits (CNGA1–4) and B‐type subunits (CNGB1 and CNGB3). Here we report the first Cnga1 mouse model identified from the library if previous ENU‐mutagenesis screens, which shows retinal degeneration in mice starting with 4 week of age. Additionally, using the ACmaster we observed changes in the axial length of the eye, the anterior chamber and lens thickness, all being reduced.
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