CRISPR/Cas9技术产生了一个错义突变,位置194的T变为A,导致第65位的valine替换为glutamate,即p.V65E。这与人类在腕管综合症家族中发现的N-terminal同源五聚体形成域的p.V66E错义突变相匹配(来源:J:292033)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Endonuclease-mediated
单点
--
1
3
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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