在该位置插入了β-actin启动子、含loxP标记的TK-Neo STOP cassette,随后是带有Leucine到Proline替换(p.L22P,CTC替换为CCC)的Polb基因。这种变异导致5-deoxyribose-5-phosphate lyase活性丧失和碱基修复效率降低。p.L22P变异在人类中与胃癌关联。这条突变株来自ES克隆89。(来源:J:340207)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6 and 129
Targeted
插入
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--
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2

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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