A loxP site was inserted into intron 2, and a lox511 site, and, in reverse orientation, a copy of exon 3 (where arginine codon 132 (CGA) was changed to histidine (p.R132H)), a second loxP site and a second lox511 site, were inserted into intron 3. An FRT site flanked selection cassette that was inserted between the second loxP and lox511 sites was removed through subsequent Flp-mediated recombination. This allele expresses the wildtype peptide and only after conditional Cre-mediated flipping of the mutated exon copy and removal of the wildtype exon will it express the modified peptide. The mutation represents the most common variant found in human gliomas. (J:342699)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Nucleotide substitutions
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1
8
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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