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Allele : Tardbp<tm3.1Ckjs> TAR DNA binding protein; targeted mutation 3.1, C K James Shen

Primary Identifier  MGI:6404633 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Tardbp
Transmission  Germline Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • TDP-43(N390D),
  • TDP-43(N390D)
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele