在exon 13的第608位,lysine(lys)被替换为alanine(ala),变异记为p.K608A,这是通过sgRNA和ssODN模板,利用CRISPR/Cas9技术实现的。这种改变导致编码的肽激酶功能丧失。(来源:J:307970)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Endonuclease-mediated
核苷酸替换
--
1
4
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
No Data Found!
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