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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
基因编辑小鼠
Clcn5
tm5.1Tjj
Alias:
Clcn5
Y672E*
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基础信息
表型特征
文献报道
在9号外显子下游插入了loxP位点,11号外显子被替换为含有导致672位氨基酸由谷氨酸变为酪氨酸(Y672E)的核苷酸突变的版本,12号外显子则替换为一个修改过的12号外显子,其中包含阿尔法酸替换天冬氨酸和甲硫氨酸替换亮氨酸的氨基酸替换。12号外显子的突变使得抗体无法识别C端,使其结构类似Clcn3的C端,这提供了一个标记,以区分这种改造蛋白与野生型的区别。此外,由FRT引导的neo cassette在11号修改外显子下游通过Flp介导的重组被移除。(来源:J:164474)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
4834485
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
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1
5
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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