Tg(DMPK*,DMWD,RSPH6A)24Lutzy
Transgene Detail

Summary

• Symbol: Tg(DMPK*,DMWD,RSPH6A)24Lutzy
• Name: transgene insertion 24, Cathy Lutz
• MGI ID: MGI:6357826
• Synonyms: Tg(Hdmpk)
• Transgene: Tg(DMPK*,DMWD,RSPH6A)24Lutzy Location: unknown Genetic Position: Chr7, Syntenic
• Alliance: Tg(DMPK*,DMWD,RSPH6A)24Lutzy page

Transgene origin

• Strain of Origin: C57BL/6J

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Tg(DMPK*,DMWD,RSPH6A)24Lutzy involves 1 genes/genome features (Sptbn4) View all
• Tg(DMPK*,DMWD,RSPH6A)24Lutzy 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

  RSPH6A (81492)

  Rsph6a

  (MGI:1927643)

• Mutation details: The transgene contains a patient-derived bacterial artificial chromosome (BAC) containing the human DMPK (dystrophia myotonica-protein kinase) gene including a CTG repeat expansion in the 3' untranslated region. The BAC also contains the neighboring human DNA regions including both DMWD and RSPH6A sequences as well as the distal region (exons 13-27) of SYMPK. The breakpoint between the human sequence of the DMPK gene and the mouse genome is about 530 bp after the end of the repeat: the polyA signal is therefore included in the DMPK transgene. The insertion of the transgene caused a 1.8 kb deletion in the mouse genome removing the Sptbn4 (spectrin beta, non-erythrocytic 4) gene. Founder 24 contains a 77 CTG repeat expansion. (J:101977)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)