|  Help  |  About  |  Contact Us

Allele : Stxbp5<em1Cjln> syntaxin binding protein 5 (tomosyn); endonuclease-mediated mutation 1, Charles J Lowenstein

Primary Identifier  MGI:6315230 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Stxbp5
Strain of Origin  (C57BL/6 x SJL)F1 Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Stxbp5(N437S),
  • Stxbp5(N437S)
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

2 Publication categories

Trail: Allele