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Allele : Tg(Eno2-Scn2a1*)Q54Mm transgene insertion Q54, Miriam Meisler

Primary Identifier  MGI:3793788 Allele Type  Transgenic
Attribute String  Inserted expressed sequence Gene  Tg(Eno2-Scn2a1*)Q54Mm
Strain of Origin  (C57BL/6J x SJL/J)F2 Is Recombinase  false
Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome: Epilepsy (J:136510)
molecularNote  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.
  • mutations:
  • Insertion
  • synonyms:
  • TgN54Mm,
  • GAL879-881QQQ,
  • Scn2a<Q54>,
  • Scn2a<Q54>,
  • TgN54Mm,
  • GAL879-881QQQ
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1 Feature

Trail: Allele

Genome

1 Expresses

Trail: Allele

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

13 Publication categories

Trail: Allele