Eukaryotic Elongation Factor 2 Kinase Activity Is Required for the Phenotypes of the Rpl24Bst Mouse

Abstract

The variant murine Rpl24Bst allele reduces gene expression by 40% and results in a white belly spot and kinked tail of variable severity and penetrance (Oliver et al., 2004). White belly spots lack melanocytes owing to defects in their motility during development, whereas kinked tails result from fused or wedge-shaped vertebrae (Oliver et al., 2004). Rpl24 encodes the protein RPL24, which is incorporated into the ribosome in the cytoplasm. Notably, altered expression of five other ribosomal protein genes—Rps7, Rps21, Rps19, Rps20, and RACK1—result in belly spots (Dinh et al., 2021; McGowan et al., 2008; Volta et al., 2013; Watkins-Chow et al., 2013).