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Tardbptm1.1Neas
Targeted Allele Detail
Nomenclature
Symbol: Tardbptm1.1Neas
Name: TAR DNA binding protein; targeted mutation 1.1, Neil A Shneider
MGI ID: MGI:6405194
Synonyms: TDP-43M337V
Gene: Tardbp  Location: Chr4:148612382-148627019 bp, - strand  Genetic Position: Chr4, 78.77 cM
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 methionine to valine substitution at amino acid 337 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 M337V mutation is one of the most common amyotrophic lateral sclerosis-associated mutations. 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:  44 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
02/23/2021
MGI 6.16
The Jackson Laboratory