The targeting vector is designed to insert a cassette containing an inverted exons 15-17 with a mutated exon 16 downstream of endogenous exon 17 of the gene. Specifically, the vector includes, from 5' to 3', a loxP site, endogenous exons 15-17, an FRT-flanked neomycin resistance (neo) cassette, a lox71 site, a cassette containing inverted exons 15-17, a lox66 site. The inverted cassette is modified to harbor a guanine to adenine substitution at amino acid 571 in exon 16, resulting in a glutamic acid to lysine mutation (E571K), commonly found in patients with a variety of cancer types, including chronic lymphocytic leukemia (CLL), Hodgkin's lymphoma (HL), and esophageal carcinoma. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:279986)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Targeted
Insertion, Nucleotide substitutions
--
1
1
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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