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Cysteine codon 170 (TGC) was changed to alanine (GCC) (p.C170A) using an sgRNA (targeting GATTAATTTTAGTTGCAACA) and an ssODN template with CRISPR/Cas9 technology. The affected residue is located in the COMM domain of the encoded peptide, which is involved in complex formation with COMMD8. This mutation abrogates the inhibitory effect of celastrol on the COMMD3/8 complex. (J:337427)
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
