在Glycine的第54位(GGC)用Arginine(AGA)替换,产生了p.G54R的变异,这是通过设计的sgRNA(靶向TAGCCGTGGGCTCAGCTGTAGGG)和CRISPR/Cas9技术,通过单链向导核苷酸(ssODN)模板实现的。这个变异等同于人类中在有线粒体肌病家族中发现的p.G58R变异(来源:J:344465)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
核苷酸替换
--
1
6
2

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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