CRISPR/Cas9技术产生了一个在第740和741位由ACA变为ATG的突变,导致第247位的丝氨酸变为甲硫氨酸。这个突变预测会导致泛素连接酶活性丧失。 Western blot结果显示,目标蛋白水平显著降低,可能是因为突变蛋白的半衰期缩短了。(来源:J:260672)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
核苷酸替换
隐性
1
2
2

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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