An intronic floxed neo cassette and 2 missense mutations (K670N and M671L), originally identified in a Swedish kindred susceptible to familial Alzheimer's disease (FAD), were introduced into exon 16 via homologous recombination. Mutant protein was identified by Western blot analysis of mutant brain extracts. Quantification of the mutant protein showed levels to be reduced by 30% to 50% relative to Apptm1.1Cep, in which the neo cassette had been removed. (J:35500)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Nucleotide substitutions
--
1
4
1

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top