Sar1b^em2Emle

CRISPR/Cas9 technology generated a G to A change resulting in a substitution of aspartic acid to an asparagine at amino acid 137 (p.D137N). In addition, two synonymous mutations were also introduced: a C to T change to facilitate genotyping and a C to G change to mutate the PAM site and avoid repair templated cleavage by cas9. D137N is the most prevalent mutation found in French Canadians with chylomicron retention disease. (J:319817)