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Using CRISPR/Cas9 with a donor oligonucleotide, a double substitution was introduced (CC>TA) to change serine codon 358 (TCC) to a leucine codon (TTA) (p.Ser358Leu). This mutation mimics the mutation seen in human arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. (J:267849)
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
