Tg(DMWD,DMPK*,SIX5)328Ggo
Transgene Detail

Summary

• Symbol: Tg(DMWD,DMPK*,SIX5)328Ggo
• Name: transgene insertion 328, Genevieve Gourdon
• MGI ID: MGI:5523461
• Synonyms: DM300-328, DMSXL
• Transgene: Tg(DMWD,DMPK*,SIX5)328Ggo Location: unknown
• Alliance: Tg(DMWD,DMPK*,SIX5)328Ggo page

Transgene origin

• Strain of Origin: (C57BL/6 x DBA/2)F1

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(DMWD,DMPK*,SIX5)328Ggo expresses 3 genes
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  DMPK (1760)

  Dmpk	(MGI:94906)

  human

  DMWD (1762)

  Dmwd	(MGI:94907)

  human

  SIX5 (147912)

  Six5	(MGI:106220)

• Mutation details: This transgene consists of a 45 kb human genomic sequence extracted from lymphobalstoid cells from a patient with mild mytonic dystrophy. The 45 kb genomic sequence carries the DMWD, DMPK and SIX5 (DMAHP) genes. A part of the DMPK gene was replaced with a sequence extracted from a patient with severe mytonic dystrophy containing approximately 360 CTG repeats. Intergenerational instability of CTG size is seen, with the majority of descendants showing expansion of +1 to +60 CTG in one generation. A greater amplification in CTG repeats is seen after paternal transmission (by a mean of +20 CTG) than after maternal transmission (mean of +9 CTG) and even larger expansions of several hundred repeats (even 1000+) have been seen in subsequent generations. (J:168896)

Disease models

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:168896 Seznec H, et al., Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum Mol Genet. 2000 May 1;9(8):1185-94
• All: 22 reference(s)