Tg(DMWD,DMPK*,SIX5)1177Ggo
Transgene Detail

Summary

• Symbol: Tg(DMWD,DMPK*,SIX5)1177Ggo
• Name: transgene insertion 1177, Genevieve Gourdon
• MGI ID: MGI:5523466
• Synonyms: DM300-1177
• Transgene: Tg(DMWD,DMPK*,SIX5)1177Ggo Location: unknown
• Alliance: Tg(DMWD,DMPK*,SIX5)1177Ggo 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)1177Ggo 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. In this line, the human DNA fragment shows a deletion of about 16 kb at the 5' end, eliminating the promoter and the first two exons of the DMPK gene. The founder had 362 CTG repeats. Intergenerational instability of CTG size is seen, with the majority of descendants showing expansion of +2 to +42 CTG in one generation. A greater amplification in CTG repeats is seen after paternal transmission than after maternal transmission. (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: 3 reference(s)