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| Nomenclature |
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Symbol:
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Tg(SOD1*L126Z)#Deng
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Name:
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transgene insertion, Han-Xiang Deng
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MGI ID: |
MGI:5449894 |
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Synonyms: |
SOD1L126Z |
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Transgene:
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Tg(SOD1*L126Z)#Deng
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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(C57BL/6 x SJL)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: This transgene consists of the human SOD1 gene with a leucine to glutamine/glutamic acid substitution at position 126 (L126Z) in exon 5. This mutation results in a premature stop codon at 126 and produces a truncated product that lacks the C-terminal 28 amino acids. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:109458)
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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:109458
Deng HX et al.,
"Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria."
Proc Natl Acad Sci U S A 2006 May 2;103(18):7142-7
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All: |
1 reference(s)
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Analysis Tools
