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CRISPR/Cas9 technology generated an ACA to ATG mutation at nucleotides 740 and 741, resulting in a change of threonine to methionine at amino acid 247. This mutation is predicted to result in loss of ubiquitin ligase activity. Western blot analysis indicates significantly lower protein levels, potentially due to shorter half-life of the mutated protein. (J:260672)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
