Sar1b^em2Emle
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sar1b^em2Emle
• Name: secretion associated Ras related GTPase 1B; endonuclease-mediated mutation 2, Emile Levy
• MGI ID: MGI:7331422
• Synonyms: Sar1b^mut
• Gene: Sar1b Location: Chr11:51654514-51682752 bp, + strand Genetic Position: Chr11, 31.41 cM
• Alliance: Sar1b^em2Emle page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Sar1b Mutation: 21 strains or lines available

References

• Original: J:319817 Auclair N, et al., Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease. J Lipid Res. 2021 May 5;62:100085
• All: 2 reference(s)