Vps16^em1Weli
Endonuclease-mediated Allele Detail

Summary

• Symbol: Vps16^em1Weli
• Name: VSP16 CORVET/HOPS core subunit; endonuclease-mediated mutation 1, Weiping Li
• MGI ID: MGI:6116463
• Gene: Vps16 Location: Chr2:130266259-130286189 bp, + strand Genetic Position: Chr2, 63.22 cM, cytoband F3
• Alliance: Vps16^em1Weli page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Single point mutation
• Mutation details: 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)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Vps16 Mutation: 35 strains or lines available

References

• Original: J:243974 Cai X, et al., Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia. Sci Rep. 2016 May 12;6:25834
• All: 1 reference(s)