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Three nucleotides (AAG) were deleted from exon 8, effectively deleting glutamic acid codon 385 (p.E385delE, GRCm39:chr1:g.58883848_58883850delAAG), using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The deletion is in the auto-cleavage site of the encoded peptide and affects its enzymatic activity by blocking auto-cleavage. (J:342732)
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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References Literature
Title
PMID
Journal
Year
IF
