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Transgene Detail
Symbol: Tg(ACTB-GNE*D176V)9Sngi
Name: transgene insertion 9, Satoru Noguchi
MGI ID: MGI:3698858
Synonyms: hGNEV572L-Tg, Tg(ACTB-GNE*V572L)9Sngi
Transgene: Tg(ACTB-GNE*D176V)9Sngi  Location: unknown  
Strain of Origin:  C57BL/6
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Tg(ACTB-GNE*D176V)9Sngi expresses 1 gene
Mutation detailsThis 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)
View phenotypes and curated references for all genotypes (concatenated display).
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Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
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
All:  5 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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