Exon 3被替换成一个带有floxed neo/STOP cassette的序列,以及一个经过修改的Exon 3,其中的GAA被替换为AAA,导致第76位氨基酸由赖氨酸变为谷氨酸(E76K),这模拟了某些儿童急性白血病和青少年单核细胞白血病(JMML)患者中发现的突变。通过Cre介导的重组,去除了floxed stop cassette。(来源:J:332221)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129S6/SvEvTac x C57BL/6J)F1
Targeted
Insertion, Single point
--
1
23
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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