Tardbp^em1Rhbr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tardbp^em1Rhbr
• Name: TAR DNA binding protein; endonuclease-mediated mutation 1, Robert Brown Jr
• MGI ID: MGI:6157626
• Synonyms: TDP-43^Q331K
• Gene: Tardbp Location: Chr4:148696839-148711476 bp, - strand Genetic Position: Chr4, 78.77 cM
• Alliance: Tardbp^em1Rhbr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: CRISPR/Cas9 methodologies were used to introduce a 1 bp base pair mutation (C>A) resulting in a Q331K point mutation. The Q331K mutation is associated with Amyotrophic Lateral Sclerosis. (J:261673)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• 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 Tardbp Mutation: 60 strains or lines available

References

• Original: J:261673 White MA, et al., TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD. Nat Neurosci. 2018 Apr;21(4):552-563
• All: 4 reference(s)