Tardbp^tm1.1Hiok
Targeted Allele Detail

Summary

• Symbol: Tardbp^tm1.1Hiok
• Name: TAR DNA binding protein; targeted mutation 1.1, Hitoshi Okazawa
• MGI ID: MGI:7282115
• Synonyms: TDP43-KI, TDP^N267S
• Gene: Tardbp Location: Chr4:148696839-148711476 bp, - strand Genetic Position: Chr4, 78.77 cM
• Alliance: Tardbp^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: Asparagine codon 267 (AAT) in exon 6 was changed to serine (p.N267S) 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:

4 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 Tardbp Mutation: 61 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: 2 reference(s)