Tg(Eno2-Scn2a1*)Q54Mm
Transgene Detail
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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
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Alliance: |
Tg(Eno2-Scn2a1*)Q54Mm page
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Strain of Origin: |
(C57BL/6J x SJL/J)F2
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Transgene Type: |
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Transgenic (Inserted expressed sequence) |
Mutation: |
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Insertion
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Tg(Eno2-Scn2a1*)Q54Mm expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
rat |
Scn2a (24766) |
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Phenotypic Similarity to Human Syndrome: Epilepsy (J:136510)
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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) |
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