Med23^em1Gwan

CRISPR/Cas9 technology generated a G to A change at position 1850 resulting in an arginine to glutamine substitution at amino acid 617 (p.R617Q) which corresponds to c.1841G>A, p.R614Q in the mouse on GRCm39. Western blot analysis indicates dramatically decreased levels of protein in E8.5 embryos while qPCR shows unchanged mRNA level. The p.R617Q missense mutation was reported in a familial intellectual disability disorder. (J:334076)