CRISPR-Cas9通过指导RNA介导的重组在位置312由A(TC)替换为C(GG),产生了一个I到R的突变。这个氨基酸对于蛋白与TRF2和端粒的结合是必需的。细胞分拣和western blot分析显示,异源和纯合MEFs中,胞质TERF2IP蛋白水平有所增加。接下来,引入了一个沉默突变(CGG替换为CGC)到下一个密码子。(来源:J:332126)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Endonuclease-mediated
核苷酸替换
--
1
1
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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