在exon 11的arginine(精氨酸)第463位(编码CGG)被替换成了甘氨酸(甘氨酸)(p.R463G),这是通过sgRNA和ssODN模板,利用CRISPR/Cas9技术实现的。这个突变等同于人类的p.R451G变异,与心律失常性心肌病(ACM)相关(来源:J:330171)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
单点
--
1
25
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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