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| Nomenclature |
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Symbol:
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Tg(Thy1-SERPINI1*G392E)333Icka
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Name:
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transgene insertion 333, Ichiro Kato
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MGI ID: |
MGI:3833390 |
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Synonyms: |
G392E-Tg |
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Transgene:
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Tg(Thy1-SERPINI1*G392E)333Icka
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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(C57BL x DBA)F1
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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 promoter was used to drive neuron-specific expression of the human cDNA containing nucleotide substitutions that result in the amino acid substitution of glutamic acid for glycine at position 392 (G392E). This mutation was originally discovered in patients with familial encephalopathy with neuroserpin inclusion bodies (FENIB). Three lines were created (333, 42, 115) with line 333 expressing at much higher levels than lines 42 and 115. (J:144649)
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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:144649
Takasawa A et al.,
"Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice."
J Biol Chem 2008 Dec 19;283(51):35606-13
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All: |
1 reference(s)
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Analysis Tools
