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A c.156C>A point mutation was introduced in exon 3 using an sgRNA and a single stranded oligonucleotide template with CRISPR/Cas9 technology. This changes codon 52 from asparagine to lysine (p.Asn52Lys or p.N52K), mimicking a mutation found in some adolescent-onset primary dystonia patients. Western blots showed reduced expression of the peptide coded by this allele. (J:243974)
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
