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The human Thy-1 promoter was used to drive expression of a presenilin cDNA containing a substitution encoding an A246E amino acid substitution. Four lines were examined for their ability to rescue phenotypic defects in presinilin deficient mice. Ability to rescue phenotype varied but line 16-3 was one of the better lines and was chosen as representative. (J:77306)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
