在ENSMUST00000189897的第6外显子(位置GRCm39:chr19:10200883Gdel, c.789Cdel)通过sgRNA(靶向GGCAAGGCTGTGACAGTCCCAGG)和ssODN模板,利用CRISPR/Cas9技术实现了一个单个核苷酸的缺失,导致了一个移码和早停密码子(p.N264Tfs*8)。这个变异等同于人类的c.789Cdel,p.S264Afs*8变异,与小眼球症关联(参考文献J:302837)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
基因内删除
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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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