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CRISPR/cas9 genome editing is used to create an R47H mutation with two silent mutations and "humanized" cryptic splice acceptor site in exon 2. The R47H mutation is one of the strongest genetic risk factors for late-onset Alzheimer's disease. (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 |
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References Literature
Title
PMID
Journal
Year
IF
