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Allele : Tardbp<em1H> TAR DNA binding protein; endonuclease-mediated mutation 1, Harwell

Primary Identifier  MGI:5749956 Allele Type  Endonuclease-mediated
Attribute String  Modified isoform(s) Gene  Tardbp
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • TDP-43 Q331K,
  • TDP-43 Q331K
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele