About   Help   FAQ
Tg(Eno2-Scn2a1*)Q54Mm
Transgene Detail
Nomenclature
Symbol: Tg(Eno2-Scn2a1*)Q54Mm
Name: transgene insertion Q54, Miriam Meisler
MGI ID: MGI:3793788
Synonyms: GAL879-881QQQ, Scn2aQ54, TgN54Mm
Transgene: Tg(Eno2-Scn2a1*)Q54Mm  Location: unknown  
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
 
Mutation detailsA 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)
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/07/2015
MGI 5.21
The Jackson Laboratory