Tardbp^em1H
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tardbp^em1H
• Name: TAR DNA binding protein; endonuclease-mediated mutation 1, Harwell
• MGI ID: MGI:5749956
• Synonyms: TDP-43 Q331K
• Gene: Tardbp Location: Chr4:148696839-148711476 bp, - strand Genetic Position: Chr4, 78.77 cM
• Alliance: Tardbp^em1H page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: Using CRISPR/Cas9 technology with sgRNA and ssODN donor template, a c.991C>A mutation was created that results in the amino acid substitution of glutamine with lysine at position 331 (p.Q331K). This mutation mimics the same mutation in human amyotrophic lateral sclerosis (ALS) patients. The mutation is located in the low complexity domain (LCD) of the encoded peptide. (J:265666)

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: 83 strains or lines available

References

• Original: J:90559 The Mammalian Genetics Unit at Harwell, Information obtained from the Mammalian Genetics Unit, Medical Research Council (MRC), Harwell, UK. Unpublished. 2004-2013
• All: 2 reference(s)