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Plasmids encoding single guide RNAs were designed to introduce the N542S point mutation (AAT>AGT), the V543V silent mutation (GTT>GTC) and L544L silent mutation (CTT>CTC) into exon 7. The N542S mutation models a missense variant (rs12488237 SNP) that is associated with late-onset Alzheimer's disease risk. (J:101977)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
