对原句翻译如下: 在第3外显子被替换为一个经过C到G的转换(替换为C387G),导致第121位氨基酸由色氨酸替换为 cysteine(即C121W),这模拟了某些遗传性热性惊厥伴有癫痫症(GEFS+)患者的突变。在修改后的第3外显子上游插入了loxP序列。下游的floxed neo cassette通过Cre介导的重组被移除,使得修改后的第3外显子保持被floxed状态。(来源:J:163771)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Single point
--
1
12
3

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
No Data Found!
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