Tardbp^tm3.1Ckjs
Targeted Allele Detail

Summary

• Symbol: Tardbp^tm3.1Ckjs
• Name: TAR DNA binding protein; targeted mutation 3.1, C K James Shen
• MGI ID: MGI:6404633
• Synonyms: TDP-43(N390D)
• Gene: Tardbp Location: Chr4:148696839-148711476 bp, - strand Genetic Position: Chr4, 78.77 cM
• Alliance: Tardbp^tm3.1Ckjs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:285792
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: The nucleotide A at position 1168 was substituted for G resulting in a N to D change at amino acid 390 in exon 6. A loxp-flanked neomycin-resistant gene that was inserted in intron 4 was removed via cre-mediated recombination. The N390D mutation was identified in a sporadic amyloid lateral sclerosis-TDP patient from Quebec. (J:285792)

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 Tardbp Mutation: 68 strains or lines available

References

• Original: J:285792 Huang SL, et al., A robust TDP-43 knock-in mouse model of ALS. Acta Neuropathol Commun. 2020 Jan 21;8(1):3
• All: 1 reference(s)