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Transgene Detail
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  
Strain of Origin:  (C57BL/6J x SJL/J)F2
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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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
Phenotypic Similarity to Human Syndrome: Epilepsy (J:136510)

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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
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