在exon 5的第178位,精氨酸密码子被替换为终止密码子TAA,通过sgRNA和一个183nt单链DNA模板,利用CRISPR/Cas9技术实现。为诊断目的,随后在该位置插入了两个额外的替换,形成了EcoRI酶切位点。这个变异的基因编码为NM_001200038.1:c.562_569delinsTAAGAAT。所有必需的成分被注入了C57BL/6胚胎的细胞质中。(来源:J:261225)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6N x C57BL/6J)F1
Endonuclease-mediated
核苷酸替换
--
1
2
12

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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