CRISPR/Cas9技术针对exon 2设计,产生了一个31bp的缺失,c.102_132del,导致了密码子框架的移位变异(p.Ala35Serfs*13),预测会导致早发性翻译终止。 Western blot结果显示,纯合子睾丸匀浆中没有检测到蛋白质。(来源:J:333286)

Basic Information

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