Summary | Mutation origin | Mutation description | Find Mice (IMSR) | Notes | References

Symbol:	Gt(ROSA)26Sortm1(TARDBP*M337V/Ypet)Tlbt
Name:	gene trap ROSA 26, Philippe Soriano; targeted mutation 1, Kevin Talbot
MGI ID:	MGI:5784728
Synonyms:	TDP-43M337V
Gene:	Gt(ROSA)26Sor  Location: Chr6:113044389-113054205 bp, - strand  Genetic Position: Chr6, 52.73 cM
Alliance:	Gt(ROSA)26Sortm1(TARDBP*M337V/Ypet)Tlbt page

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

Allele Type:    Targeted (Conditional ready, Humanized sequence, Inserted expressed sequence, Reporter) Mutations:    Insertion, Nucleotide substitutions   Gt(ROSA)26Sortm1(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)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Gt(ROSA)26Sor Mutation:	944 strains or lines available

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:	4 reference(s)