Tardbp^{tm1.1(TARDBP)Flo}
Targeted Allele Detail

Summary

• Symbol: Tardbp^{tm1.1(TARDBP)Flo}
• Name: TAR DNA binding protein; targeted mutation 1.1, Thomas Floss
• MGI ID: MGI:5634381
• Synonyms: hTDP-43^A315T, TDP-43^A315TKi
• Gene: Tardbp Location: Chr4:148696839-148711476 bp, - strand Genetic Position: Chr4, 78.77 cM
• Alliance: Tardbp^{tm1.1(TARDBP)Flo} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:214706
• Parent Cell Line: TBV2 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tardbp^{tm1.1(TARDBP)Flo} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TARDBP (23435)

  Tardbp

  (MGI:2387629)

  The cDNA carries the ALS mutation A315T.

• Mutation details: RMCE of Tardbp^{Gt(D045A10)Wrst} inserted the human cDNA encoding the amino acid substitution of threonine for alanine at position 315 (A315T). This mutation is found in patients with amyotrophic lateral sclerosis (ALS). Cre-mediated recombination removed the hygromycin resistance cassette. Western blot analysis confirmed increased expression of the modified allele. (J:214706)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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:214706 Stribl C, et al., Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43. J Biol Chem. 2014 Apr 11;289(15):10769-84
• All: 2 reference(s)