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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
Rela
tm1.2Gho
Alias:
p65-R274A, S276A(RAPA)
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基础信息
表型特征
文献报道
通过在ES细胞中通过同源重组,Rela基因第7外显子中Arg274和Ser276位置的内源DNA序列被替换为Alanine的密码子,后面跟着两个由LoxP座标记的neo cassette,这个neo cassette插入到了第7外显子之后的内含子中。之后,neo cassette要么在重组的ES细胞中通过转染Cre重组酶来删除,要么在小鼠中通过与携带Cre基因的斯皮尔鼠杂交来去除,只保留一个LoxP座。这种突变的存在通过RT-PCR和DNA测序得到了确认。翻译出的突变蛋白量有些减少。(来源:J:134684)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
3794988
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
4
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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