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Tardbptm2.1Neas
Targeted Allele Detail
Summary
Symbol: Tardbptm2.1Neas
Name: TAR DNA binding protein; targeted mutation 2.1, Neil A Shneider
MGI ID: MGI:6405195
Synonyms: TDP-43G298S
Gene: Tardbp  Location: Chr4:148696839-148711476 bp, - strand  Genetic Position: Chr4, 78.77 cM
Alliance: Tardbptm2.1Neas page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:283769
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6N
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA glycine to serine substitution at amino acid 298 was introduced into exon 6 along with a FRT-flanked neomycin resistance cassette via homologous recombination. Flp-mediated recombination removed the neo selection cassette. The G298S mutation is associated with shorter progression of amyotrophic lateral sclerosis. TARDBP remains nuclear in homozygous mice. (J:283769)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:283769 Ebstein SY, et al., Mutant TDP-43 Causes Early-Stage Dose-Dependent Motor Neuron Degeneration in a TARDBP Knockin Mouse Model of ALS. Cell Rep. 2019 Jan 8;26(2):364-373.e4
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory