Article
Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations.
Zoological research - 18 May 2022
Ren Zhi-Lin, Zhang Hou-Bin, Li Lin, Yang Zheng-Lin, Jiang Li
Abstract excerpt
Mutations in serologically defined colon cancer autoantigen protein 8 ( SDCCAG8) were first identified in retinal ciliopathy families a decade ago with unknown function. To investigate the pathogenesis of SDCCAG8-associated retinal ciliopathies in vivo, we employed CRISPR/Cas9-mediated homology-directed recombination (HDR) to generate two knock-in mouse models, Sdccag8Y236X/Y236X and...
Topics
- Animals
- Autoantigens
- Bardet-Biedl Syndrome
- Ciliopathies
- Fibroblasts
- Mice
- Mutation
- Neoplasm Proteins
- Polydactyly