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| Nomenclature |
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Symbol:
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Tg(ACTB-GNE*D176V)9Sngi
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Name:
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transgene insertion 9, Satoru Noguchi
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MGI ID: |
MGI:3698858 |
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Synonyms: |
hGNEV572L-Tg, Tg(ACTB-GNE*V572L)9Sngi |
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Transgene:
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Tg(ACTB-GNE*D176V)9Sngi
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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C57BL/6
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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 beta-actin promotor driving expression of a human GNE cDNA with a D176V mutation. The cDNA was also flanked with loxP sites. Expression of the transgene was detected in the skeletal muscle and at lower levels in the heart, brain, kidney, spleen, and liver. Four lines were generated, lines 3,6,7 and 9, with 2, 3, 4, and 5 copies of the transgene integrated. Line 9 was used for all phenotypic analysis. (J:117854)
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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:117854
Malicdan MC et al.,
"A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy."
Hum Mol Genet 2007 Jan 15;16(2):115-28
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All: |
4 reference(s)
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Analysis Tools
