Vps16^em1Weli

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Species

Mus musculus

Symbol

Vps16^em1Weli

Category

allele

Allele of gene

Vps16

Transgenic Constructs

None

Synonyms

None

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations