A human PSEN1 cDNA with a mutation in the codon for amino acid residue 384 causing a glycine to alanine change (G384A) was placed under the control of the murine Thy1.2 minigene. This mutant form is known to increase Abeta1-42 production. (J:92796, J:163811)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
--
Insertion
--
1
--
17

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
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