Eef1a2^em#Abb

CRISPR/Cas9 technology generated a G to C change at position 754 resulting in a aspartate to histidine substitution at amino acid 252 (D252H). Two lines were established. This record represents pooled data from the two lines. No difference from wild-type mice in RNA levels is seen, however protein levels are approximately 60% that of wild-type mice in the brain and are approximately 1.6 times higher than in wild-type mice in muscle. This mutation appears to result in a gain of function. (J:296080)