A loxP site was inserted upstream of exon 13. A lox511 site, a inverted and modified exon 13 with a point mutation (GTC to TTC) that results in the amino acid substitution of phenylalanine for valine at position 617 (V617F) and a loxP site were inserted downstream of of exon 13. Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette inserted downstream of the modified exon 13 and left a lox511 site downstream of the modified exon 13. Cre-mediated recombination inverted the modified and endogenous exon 13 to allow for expression of the modified exon 13. (J:202234)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Single point
--
1
11
8

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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