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The targeting vector contains (from 5' to 3') a mutant loxP site (upstream of exon 15), and downstream of exon 16 - a FRT-flanked neomycin/lacZ cassette, a loxP site, inverted copies of exon 15 with the K700E mutation and exon 16, a second mutant loxP site (in opposite orientation to the first mutant loxP site) and a loxP site (in opposite orientation to the first loxP site). Flp-mediated recombination removed the FRT-flanked neo cassette. The K700E (lysine to glutamic acid) substitution is associated with myelodysplastic syndromes. The unrecombined conditional allele is hypomorphic. (J:234976)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
