eEF2K activity is required for the phenotypes of the Rpl24 mouse

The mutant 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 due 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 (large ribosomal protein subunit eL24), which is incorporated into the ribosome in the cytoplasm. Notably, altered expression of 5 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).