CRISPR/Cas9 mutagenesis was used to induce three mutations at different sites: two of these (CGA>AGC, TGT>AGC) caused the substitution of serine 260 and threonine 278 with alanine in the encoded protein (p.S260A, p.T278S). The third mutation is a synonymous substitution that removed the PAM site to prevent the sgRNA from binding to the edited allele. (J:276388)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Endonuclease-mediated
Nucleotide substitutions
--
1
--
1

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

References Literature

Title
PMID
Journal
Year
IF
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