Allele/Variant

Tardbptm3.1Ckjs

Species
Mus musculus
Symbol
Tardbptm3.1Ckjs
Category
allele
Allele of gene
Tardbp
Transgenic Constructs
None
Synonyms
  • TDP-43(N390D)
Description
The nucleotide A at position 1168 was substituted for G resulting in a N to D change at amino acid 390 in exon 6. A loxp-flanked neomycin-resistant gene that was inserted in intron 4 was removed via cre-mediated recombination. The N390D mutation was identified in a sporadic amyloid lateral sclerosis-TDP patient from Quebec.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
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