CRISPR/Cas9技术产生了一个G到A的替换(c.290G>A),导致了第97位氨基酸的甘氨酸替换为天冬氨酸(p.G97D)。同时,引入了两个无义突变以避免gRNA识别和剪切:AAG变为AAA(p.K95),CAG变为GAA(p.E373)。G97D是一个在女性不孕家族中发现的变异(文献来源:J:336445)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
单点
--
1
2
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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