CRISPR/FokI-dCAs9技术产生了一个A到G的转换,导致第353位的谷氨酰胺替换为精氨酸。这种变异在一组大样本家族性扩张型心肌病患者中被发现。(来源:J:335522)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x DBA/2)F2
Endonuclease-mediated
单点
--
1
44
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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