Gt(ROSA)26Sor^{tm1(TARDBP*M337V/Ypet)Tlbt}
Targeted Allele Detail

Summary

• Symbol: Gt(ROSA)26Sor^{tm1(TARDBP*M337V/Ypet)Tlbt}
• Name: gene trap ROSA 26, Philippe Soriano; targeted mutation 1, Kevin Talbot
• MGI ID: MGI:5784728
• Synonyms: TDP-43^M337V
• Gene: Gt(ROSA)26Sor Location: Chr6:113044389-113054205 bp, - strand Genetic Position: Chr6, 52.73 cM
• Alliance: Gt(ROSA)26Sor^{tm1(TARDBP*M337V/Ypet)Tlbt} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:259586
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: (C57BL/6J x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Inserted expressed sequence, Reporter)
• Mutations: Insertion, Nucleotide substitutions
• Gt(ROSA)26Sor^{tm1(TARDBP*M337V/Ypet)Tlbt} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TARDBP (23435)

  Tardbp

  (MGI:2387629)

  with mutation M337V

• Mutation details: The human TARDBP from BAC RP11-829B14 was modified by site-directed mutagenesis to create the M337V missense mutation in exon 6 (an A-to-G base change (A1009G) encoding a methionine-to-valine substitution at amino acid position 337). The final construct includes the TDP-43-M337V genomic DNA (44,886 bp) with a Ypet ORF cDNA sequence (717 bp; described below) fused to the 5' end of TARDBP exon 6, as well as 9.2 kbp of the original BAC backbone sequences. The TDP-43-M337V-Ypet BAC sequences are flanked with loxP sites. Embryonic stem (ES) cells with a pre-integrated Gt(ROSA)26Sor locus (splice acceptor::FRT::PGK promoter-attP-hygromycin resistance gene-pA::FRT::attP between exons 1 and 2) were re-transfected with the TDP-43-M337V-Ypet BAC sequence and a PhiC31 vector for integrase-mediated cassette exchange. The Ypet cDNA sequence is a codon-improved YFP variant YFP3 (with F46L, I47L, S208F, V224L, H231E, D234N mutations) further modified to include several Venus mutations (F64L, R79K, M153T, V163A, S175G), resulting in the YFP for energy transfer (YPet) variant. (J:259586, J:265544)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Gt(ROSA)26Sor Mutation: 1040 strains or lines available

Notes

embryonic stem cell line = IDG26.10-3

References

• Original: J:259586 Mutihac R, et al., TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca(2)(+) signaling in motor neurons. Neurobiol Dis. 2015 Mar;75:64-77
• All: 6 reference(s)