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A loxP site, wild-type exons 11 and 12, an FRT site flanked neomycin selection cassette, a second loxP site, and exon 11 and a modified exon 12, where isoleucine codon 438 (ATC) was changed to lysine (AAG) (p.I438K), replaced exons 11 and 12. The neo cassette was removed via Flp-mediated recombination. Cre-mediated recombination removed the wild-type exons 11 and 12 allowing for the expression of the I438K mutant. The mutation changes the codon to and is analogous to the human p.I440K mutation. (J:308554)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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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References Literature
Title
PMID
Journal
Year
IF
