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A T>A substitution (c.362T>A) was introduced using CRISPR/Cas9 technology. This mutation changes isoleucine codon 121 into a asparagine codon (p.I121N), mimicking the p.I122N mutation found in Charcot-Marie-Tooth Disease patients. (J:283448)
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
