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Allele : Sar1b<em2Emle> secretion associated Ras related GTPase 1B; endonuclease-mediated mutation 2, Emile Levy

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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Sar1b<mut>,
  • Sar1b<mut>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories