Tg(ACTB-GNE*D176V)9Sngi
Transgene Detail

Summary

• 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
• Alliance: Tg(ACTB-GNE*D176V)9Sngi page

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
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  GNE (10020)

  Gne	(MGI:1354951)

• 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)

Disease models

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: 6 reference(s)