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| Nomenclature |
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Symbol:
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Tg(CAG-SPTLC1*C133W)8EAmcc
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Name:
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transgene insertion 8E, Alexander McCampbell
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MGI ID: |
MGI:4418339 |
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Synonyms: |
SPTLC1C133W |
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Transgene:
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Tg(CAG-SPTLC1*C133W)8EAmcc
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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Not Specified
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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: The CAG promoter drives ubiquitous expression of the hamster cDNA containing nucleotide substitutions that result in the amino acid substitution of tryptophan for cysteine at position 133 (C133W). This mutation is commonly found in patients with type 1 hereditary sensory and autonomic neuropathy (HSAN1). Three lines were created (lines 8B, 8E, and 8F) with lines 8E expressing the highest levels and selected as the representative line. (J:106812)
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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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| References |
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Original: |
J:106812
McCampbell A et al.,
"Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy."
Hum Mol Genet 2005 Nov 15;14(22):3507-21
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All: |
3 reference(s)
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Analysis Tools
