Tg(ATN1*)Q129Stsu
Transgene Detail

Summary

• Symbol: Tg(ATN1*)Q129Stsu
• Name: transgene insertion Q129, Shoji Tsuji
• MGI ID: MGI:3834570
• Synonyms: Q129
• Transgene: Tg(ATN1*)Q129Stsu Location: unknown
• Alliance: Tg(ATN1*)Q129Stsu page

Transgene origin

• Germline Transmission: Earliest citation of germline transmission: J:144379
• Parent Cell Line: CCE/EK.CCE (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(ATN1*)Q129Stsu expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  ATN1 (1822)

  Atn1	(MGI:104725)

  The gene contains 129 CAG repeats.

• Mutation details: The transgene was engineered from BAC DRPLA18E that contains the human gene for ATN1 from a patient with dentatorubral-pallidoluysian atrophy (DRPLA) with a 76 CAG trinucleotide repeat within the gene. During maintenance of Tg(ATN1*)Drm21Stsu a mosaic mouse was isolated contained a combination of cells with 76 CAG repeats and 129 CAG repeats within the transgene. This mouse was bred to produce a line with the mutant human ATN1 with 129 CAG repeats. (J:144379)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(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

References

• Original: J:144379 Sato T, et al., Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice. Hum Mol Genet. 2009 Feb 15;18(4):723-36
• All: 1 reference(s)