CRISPR/Cas9技术产生了一个CC转为GA的改变,导致第1244位的脯氨酸被天冬氨酸替代(P1244D),以及一个C变为T,导致第1245位的Alanine变为Valine(A1245V)。这些变异移除了关键的切割位点,使得蛋白质对ADAMTS-3无法被剪切(J:293055)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
核苷酸替换
--
1
10
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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