Tg(Ckm-Chrne*L269F)5Cgz
Transgene Detail

Summary

• Symbol: Tg(Ckm-Chrne*L269F)5Cgz
• Name: transgene insertion 5, Christopher Gomez
• MGI ID: MGI:5468686
• Synonyms: epsilonL269F
• Transgene: Tg(Ckm-Chrne*L269F)5Cgz Location: unknown
• Alliance: Tg(Ckm-Chrne*L269F)5Cgz page

Transgene origin

• Strain of Origin: FVB/NJ

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(Ckm-Chrne*L269F)5Cgz expresses 1 gene
  Transgene expresses:
  

  Organism	Expressed Gene	Note
  mouse	Chrne (MGI:87894)

• Mutation details: A transgene was generated encoding the murine mutant cholinergic receptor, nicotinic, epsilon polypeptide (Chrne*L269F) under control of a murine creatine kinase, muscle (Ckm) promoter. A point mutation was introduced resulting in the epsilonL269F mutation as present in the affected members of two families with the slow-channel congenital myasthenic syndrome (SCCMS). The 3' untranslated end of the epsilonL269F cDNA was removed and replaced with the 3' UTR pf the neomycin resistance gene (neo) and an intron from the SV40 small t intron. Line 5 was generated. (J:193524)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:193524 Gomez CM, et al., Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction. J Neurosci. 1997 Jun 1;17(11):4170-9
• All: 8 reference(s)