在exon 4的arginine(AGG)位置被替换成了leucine(CTT),编码序列变为p.R80L,这是通过sgRNAs(针对GAGGAGGATAAAGCCCGAAG和TGACTCACAGCAAGTCTGGG)和ssODN模板,利用CRISPR/Cas9技术实现的。R80对于matriptase介导的编码肽切割是必需的,参考文献为J:340720。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/NJ
Endonuclease-mediated
核苷酸替换
--
1
6
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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