Tg(CAG-EPM2A*C266S)1Bmin
Transgene Detail

Summary

• Symbol: Tg(CAG-EPM2A*C266S)1Bmin
• Name: transgene insertion 1, Berge A Minassian
• MGI ID: MGI:6459753
• Transgene: Tg(CAG-EPM2A*C266S)1Bmin Location: unknown
• Alliance: Tg(CAG-EPM2A*C266S)1Bmin page

Transgene origin

• Strain of Origin: C57BL/6 x SJL

Transgene description

• Transgene Type: Transgenic (Dominant negative, Epitope tag, Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(CAG-EPM2A*C266S)1Bmin expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  EPM2A (7957)

  Epm2a

  (MGI:1341085)

  modified human gene (C266S)

• Mutation details: The human EPM2A cDNA containing a DSP-inactivating point mutation of a G to C change at position 797 resulting in a cysteine to serine substitution at amino acid 266 (p.C266S) with a c-myc tag at the 5' end is under the control of the CAG promoter (consisting of the cytomegalovirus immediate-early enhancer and the chicken beta-actin promoter). Two lines were generated. This line shows transgene expression in the brain, skeletal muscle, heart and liver. (J:262504)

Disease models

Expression

In Structures Affected by this Mutation:

1 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:262504 Chan EM, et al., Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Hum Mol Genet. 2004 Jun 1;13(11):1117-29
• All: 2 reference(s)