Stxbp5^em1Cjln
Endonuclease-mediated Allele Detail

Summary

• Symbol: Stxbp5^em1Cjln
• Name: syntaxin binding protein 5 (tomosyn); endonuclease-mediated mutation 1, Charles J Lowenstein
• MGI ID: MGI:6315230
• Synonyms: Stxbp5(N437S)
• Gene: Stxbp5 Location: Chr10:9631291-9776823 bp, - strand Genetic Position: Chr10, 3.21 cM, cytoband A2
• Alliance: Stxbp5^em1Cjln page

Mutation origin

• Strain of Origin: (C57BL/6 x SJL)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing was used to create an amino acid substitution at position 437 altering asparagine to serine (N437S; AAT to AGC) in exon 13 of the gene. The mutation is located in the WD40 repeat domain, which is involved in regulation of exocytosis in multiple cell types. The orthologous human variant N436S (SNP rs1039084) is associated with decreased thrombosis. (J:262652)

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 Stxbp5 Mutation: 68 strains or lines available

References

• Original: J:262652 Zhu QM, et al., Novel Thrombotic Function of a Human SNP in STXBP5 Revealed by CRISPR/Cas9 Gene Editing in Mice. Arterioscler Thromb Vasc Biol. 2017 Feb;37(2):264-270
• All: 1 reference(s)