在第13外显子的lysine编码位置392(AAA)被替换为arginine(AGA),通过sgRNA和ssODN模板,使用了CRISPR/Cas9技术。这个突变发生在编码肽的DNA结合区域,与影响糖尿病严重程度的同一个人类功能获益性变异(NM_011486.3:c.1175A>G)相同。(来源:J:342716)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Endonuclease-mediated
单点
--
1
8
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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