An inverted floxed pgk-neo cassette was inserted in intron 19 and codon 838 was changed to TAC from TAT in exon 20 via homologous recombination. This results in a D838Y mutation corresponding to the D835Y mutation seen in patients with acute myeloid leukemia. Removal of the neo cassette increases expression and activity of this allele. (J:205200)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Insertion, Single point
--
1
11
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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