Tardbp^em1Koya
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tardbp^em1Koya
• Name: TAR DNA binding protein; endonuclease-mediated mutation 1, Koji Yamanaka
• MGI ID: MGI:6405404
• Synonyms: TDP-43^M337V
• Gene: Tardbp Location: Chr4:148696839-148711476 bp, - strand Genetic Position: Chr4, 78.77 cM
• Alliance: Tardbp^em1Koya page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to G nucleotide change at position 1009 resulting in a methionine to valine substitution at amino acid 337 in exon 6. Analysis of mRNA levels and protein levels in the brain shows no difference in expression level from wild-type. Splicing of mRNAs regulated by TARDBP is deregulated in spinal cords, indicating a gain of splicing function. The M337V mutation is seen in patients with amyotrophic lateral sclerosis. (J:285477)

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:285477 Watanabe S, et al., ALS-linked TDP-43(M337V) knock-in mice exhibit splicing deregulation without neurodegeneration. Mol Brain. 2020 Jan 20;13(1):8
• All: 1 reference(s)