Exons 16 and 17 were replaced with a loxP site, a truncated exon 16 with a BACE cleavage site at K670M671 followed by a stop codon, an FRT-flanked neo cassette with a 3' loxP site, a modified exon 16 with the Swedish mutation K595N/M596L (APP695) and three additional mutations (G601R, F606Y, R609H) to humanize the sequence, and a modified exon 17 with the Arctic mutation E618G, London mutation V642I, silent mutation on G621S622 (GGTTCG to GGATCC) to create a BamHI site, and a frameshift mutation starting at I656H657H658 (ATC CAT CAT to ATC ATC AT) that results in a stop codon 30 bp after the frameshift side such that there are 10 resides behind I656. Cre-mediated recombination removed the truncated exon 16 and the neo cassette. (J:166379)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, 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:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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