Chmp2b^tm1.1Hiok
Targeted Allele Detail

Summary

• Symbol: Chmp2b^tm1.1Hiok
• Name: charged multivesicular body protein 2B; targeted mutation 1.1, Hitoshi Okazawa
• MGI ID: MGI:7282116
• Synonyms: CHMP2B-KI, CHMP2B^Q165X
• Gene: Chmp2b Location: Chr16:65336014-65359612 bp, - strand Genetic Position: Chr16, 37.26 cM, cytoband C1.3
• Alliance: Chmp2b^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: Glutamine codon 165 (CAA) in exon 5 was changed to a stop codon (p.Q165*) and a loxP site flanked neomycin resistance gene was inserted into intron 4. 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:

3 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 Chmp2b Mutation: 25 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)