Vcp^tm1.1Hiok
Targeted Allele Detail

Summary

• Symbol: Vcp^tm1.1Hiok
• Name: valosin containing protein; targeted mutation 1.1, Hitoshi Okazawa
• MGI ID: MGI:7282107
• Synonyms: VCP-KI, VCP^T262A
• Gene: Vcp Location: Chr4:42979964-43000507 bp, - strand Genetic Position: Chr4, 22.95 cM
• Alliance: Vcp^tm1.1Hiok page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:308471
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Threonine codon 262 (ACT) in exon 7 was changed to alanine (p.T262A) and a loxP site flanked neomycin resistance gene was inserted into intron 7. The neo cassette was removed through subsequent cre-mediated recombination. The equivalent human mutation is associated with frontotemporal lobar degeneration (FTLD). (J:308471)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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 Vcp Mutation: 50 strains or lines available

References

• Original: J:308471 Homma H, et al., DNA damage in embryonic neural stem cell determines FTLDs' fate via early-stage neuronal necrosis. Life Sci Alliance. 2021 Jul;4(7)
• All: 1 reference(s)