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Glycine codon 54 (GGC) was changed to arginine (AGA) (p.G54R) using an sgRNA (targeting TAGCCGTGGGCTCAGCTGTAGGG) and an ssODN templete using CRISPR/Cas9 technology. The mutation is the equivalent of the human p.G58R mutation found in a family with mitochondrial myopathy. (J:344465)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
