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Histidine codon 3448 (CAC) in exon 64 was changed to arginine (CGT) (p.H3448R) and a neomycin resistance gene cassette flanked by self-deletion anchor sites was inserted into intron 64. The mutation is the equivalent of the human p.H3447R mutation associated with resilience to autosomal dominant Alzheimers disease (ADAD). (J:341134)
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
