在第3外显子的Asparagine(天冬氨酸)密码子180(AAT)和196(AAC)被替换为Glutamine(精氨酸),通过sgRNA和ssODN模板,采用CRISPR/Cas9技术。这些改变阻止了编码肽中受影响残基的糖基化。(来源:J:297826)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x SJL)F1 x C57BL/6NJ
Endonuclease-mediated
核苷酸替换
--
1
10
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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