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| Nomenclature |
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Symbol:
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Tg(Eno2-Scn2a1*)Q54Mm
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Name:
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transgene insertion Q54, Miriam Meisler
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MGI ID: |
MGI:3793788 |
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Synonyms: |
GAL879-881QQQ, Scn2aQ54, TgN54Mm |
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Transgene:
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Tg(Eno2-Scn2a1*)Q54Mm
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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(C57BL/6J x SJL/J)F2
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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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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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Notes |
Phenotypic Similarity to Human Syndrome: Epilepsy (J:136510)
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| References |
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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
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All: |
6 reference(s)
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Analysis Tools
