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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
Chrna7
tm3.1Swr
Alias:
alpha7
E260A
E260A Chrna7-IRES-tauGFP mice
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基础信息
表型特征
文献报道
Exon 7被修改,插入了两个碱基突变(CT变为GG),导致第260位氨基酸由Alanine替换为Glutamic Acid(艾尔氨酸替换为谷氨酸,E260A)。末端加入了C-terminal的血小板会聚素(HA)表位(YPYDVPDY)。同时,将IRES、MAPT(tau)和GFP报告基因融合插入了3' UTR。通过Flp介导的重组,去除了下游报告基因融合后插入的FRT引导的诺卡因抗性基因 cassette。来源:(J:229180)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
5763561
129
Targeted
Insertion, Nucleotide substitutions
--
1
2
5
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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