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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
Mdm2
tm1.2Khv
Alias:
Mdm2
I438K
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基础信息
表型特征
文献报道
这个描述的是一个基因工程改造的过程。在DNA中,一个loxP位点用于定向插入,包含野生型的11和12号外显子(exons),一个FRT周围带有氨苄青霉素抗性标记的neomycin筛选 cassette,接着是另一个loxP位点,以及被修改过的11号和12号外显子,其中第438位的异亮氨酸(Ile, ATC)被替换成了赖氨酸(Lys, AAG),编码为p.I438K。通过Flp介导的重组,去除了neomycin cassette。随后,Cre介导的重组剔除了野生型的11和12号外显子,使得p.I438K突变体得以表达。这个突变改变了一个密码子,与人类的p.I440K变异相似(文献来源:J:308554)。
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
7328425
129P2/OlaHsd-Hprt1b-m3
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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