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CRISPR/cas9-mediated genome editing is used to replace valine 340 with a premature stop codon in exon 8. The mutation disrupts the expression of the protein's C-terminal tail (CTT). Expression levels of the mutant protein are comparable to wild-type. (J:292197)
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
