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Allele : Vcp<em1Kene> valosin containing protein; endonuclease-mediated mutation 1, Ken Ebihara

Primary Identifier  MGI:7284311 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Vcp
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Alanine codon 232 (GCG) was changed to glutamic acid (GAG) (p.A232E) using an sgRNA (targeting CCTGCGCTGTTTAAGGCGATTGG) and an ssODN template (AGATAAAGGAGATGGTGGAGCTGCCACTGAGACATCCTGCACTGTTTAAAGAGATTGGTGTAAAGGTGAGTATCCTAAGGTCTGTGGGGAGTCT) with CRISPR/Cas9 technology. The gain-of-function mutation is located in the D1 ATPase domain of the encoded peptide and is associated with multisystem proteinopathy in humans.
  • mutations:
  • Single point mutation
  • synonyms:
  • Vcp<A232E>,
  • Vcp<A232E>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele