在exon 15的arginine(AGA)密码子被替换为threonine(ACA),通过sgRNA和ssODN模板,使用了CRISPR/Cas9技术,这个变异等同于在某些NSCL/P(无综合征性唇裂伴或不伴有腭)患者中发现的人类p.R551T变异。(来源:J:328230)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
单点
--
1
2
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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