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Tg(ACTB-GNE*D176V)9Sngi
Transgene Detail
Nomenclature
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  
Transgene
origin
Strain of Origin:  C57BL/6
Transgene
description
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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
References
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:  4 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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last database update
02/17/2015
MGI 5.21
The Jackson Laboratory