Tardbp^tm1.1Neas
Targeted Allele Detail

Summary

• Symbol: Tardbp^tm1.1Neas
• Name: TAR DNA binding protein; targeted mutation 1.1, Neil A Shneider
• MGI ID: MGI:6405194
• Synonyms: TDP-43^M337V
• Gene: Tardbp Location: Chr4:148696839-148711476 bp, - strand Genetic Position: Chr4, 78.77 cM
• Alliance: Tardbp^tm1.1Neas 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 details: A 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)

Disease models

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: 72 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)