在exon 9中的 cysteine(231)密码子(TGC)被替换成了丝氨酸(AGC),变异记为p.C231S,这是通过设计的sgRNA(靶向CGTGGTTGTGTTGTACTGCA)和CRISPR/Cas9技术结合ssODN模板实现的(来源:J:296747)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB
Endonuclease-mediated
单点
--
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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