Tg(Eno2-Scn2a1*)Q54Mm
Transgene Detail

Summary

• Symbol: Tg(Eno2-Scn2a1*)Q54Mm
• Name: transgene insertion Q54, Miriam Meisler
• MGI ID: MGI:3793788
• Synonyms: GAL879-881QQQ, Scn2a^Q54, TgN54Mm
• Transgene: Tg(Eno2-Scn2a1*)Q54Mm Location: unknown
• Alliance: Tg(Eno2-Scn2a1*)Q54Mm page

Transgene origin

• Strain of Origin: (C57BL/6J x SJL/J)F2

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(Eno2-Scn2a1*)Q54Mm expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  rat

  Scn2a (24766)

  Scn2a

  (MGI:98248)

• Mutation details: A 4 kb promoter fragment from the rat NSE gene that includes 2.8 kb of 5'-flanking sequence, exon 1, intron 1 and 6 bp of exon 215 was used to drive expression of a mutant form of Scn2a1 containing a replacement of residues 879 to 881 (glycine-alanine-leucine) of the wild-type channel with three glutamine residues in the encoded mutant protein. These mutations are in the S4/S5 cytoplasmic linker of domain 2. In addition, a FLAG epitope is located immediately downstream of the initiator methionine. RT-PCR of RNA from dissected brain regions demonstrated that the transgene is widely expressed. No expression in other tissues was detected except for a low level in heart and spleen. (J:108884)

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

Notes

Phenotypic Similarity to Human Syndrome: Epilepsy (J:136510)

References

• Original: J:108884 Kearney JA, et al., A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience. 2001;102(2):307-17
• All: 12 reference(s)