Primary Identifier | MGI:7331422 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Sar1b |
Strain of Origin | C57BL/6N | Is Recombinase | false |
Is Wild Type | false |
molecularNote | 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. |