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Allele : Vps16<em1Weli> VSP16 CORVET/HOPS core subunit; endonuclease-mediated mutation 1, Weiping Li

Primary Identifier  MGI:6116463 Allele Type  Endonuclease-mediated
Attribute String  Hypomorph Gene  Vps16
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories