Tardbp^tm2.1Ckjs
Targeted Allele Detail

Summary

• Symbol: Tardbp^tm2.1Ckjs
• Name: TAR DNA binding protein; targeted mutation 2.1, C K James Shen
• MGI ID: MGI:6404631
• Synonyms: TDP-43(A315T)
• Gene: Tardbp Location: Chr4:148696839-148711476 bp, - strand Genetic Position: Chr4, 78.77 cM
• Alliance: Tardbp^tm2.1Ckjs 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 G at position 943 was substituted for A resulting in an A to T change at amino acid 315 in exon 6. A loxp-flanked neomycin-resistant gene that inserted in intron 4 was removed via cre-mediated recombination. The A315T mutation is seen in several European families with amyloid lateral sclerosis. (J:285792)

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)