在exon 38的第2699位,Aspartic acid(天冬氨酸)的密码子( GAT)被替换成了Glycine(甘氨酸),变异记为p.D2699G,这是通过CRISPR/Cas9技术使用sgRNA和ssODN模板实现的。这个突变等同于人类中与冠状动脉疾病(CAD)关联的p.D2702G变异。(来源:J:304349)

Basic Information

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