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The targeting contruct inserted into the locus contained a CAG promoter, floxed neomycin resistance and STOP cassette, and the human cDNA with a TCTG duplication at positions 956 to 959 in exon 12 (GenBank accession number NM_002520). This mutation is the most frequent mutation of the NPM1 gene in patients with acute myeloid leukemia (AML). (J:196690)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
