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Insertion of a neomycin resistance cassette into intron 1 and an arginine to glutamine point mutation at position 233 of exon 1 (R233Q) was introduced via homologous recombination. Western blot of brain homogenates from homozygous mutant animals verified the presence of protein expression and enzyme assays demonstrated similar phospholipid- and syntaxin-binding ability compared to wild-type. However, calcium affinity was decreased by 2-fold. (J:76452)
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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References Literature
Title
PMID
Journal
Year
IF
