CRISPR/Cas9技术产生了一个2个碱基的插入(AT),在exon 2,导致一个在框内的早期TAA终止密码子,距离ATG起始密码子386bp下游。 quadriceps的qRT-PCR结果显示转录水平显著降低,而肌肉组织的 Western blot分析则显示同源纯合子中蛋白质丢失。(来源:J:247651)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Endonuclease-mediated
插入
--
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
No Data Found!
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