Log In|Sign Up
EN
Arginine codons 276 (AGG) and 279 (AGG) in exon 8 were changed to alanine (GCG) (p.R276A, p.R279A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. These mutations block processing of the encoded peptide by FURIN (paired basic amino acid cleaving enzyme) and site 1 membrane-bound transcription factor peptidase (MBTPS1). (J:324587)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
