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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
