Tg(Eno2-MFN2*R94Q)L87Ugfm
Transgene Detail

Summary

• Symbol: Tg(Eno2-MFN2*R94Q)L87Ugfm
• Name: transgene insertion L87, University of Geneva Faculty of Medicine
• MGI ID: MGI:5476535
• Synonyms: hMFN2R94Q, hMFN2R94QL87, MitoCharc2, NSE-hMFN2R94Q
• Transgene: Tg(Eno2-MFN2*R94Q)L87Ugfm Location: unknown
• Alliance: Tg(Eno2-MFN2*R94Q)L87Ugfm page

Transgene origin

• Strain of Origin: (C57BL/6 x DBA/2)F1

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Eno2-MFN2*R94Q)L87Ugfm expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  MFN2 (9927)

  Mfn2	(MGI:2442230)

• Mutation details: This transgene contains the promoter of the rat neuron-specific enolase 2 gene driving expression of a mutated human mitofusin 2 cDNA, which is followed by the SV40 polyadenylation signal. The MFN2 protein encoded by the transgene has glutamine in place of arginine at amino acid position 94 (R94Q), which is the most frequently substituted amino acid among patients with Charcot-Marie-Tooth disease, axonal, type 2A2 (CMT2A2). Expression of human MFN2 mRNA was demonstrated by reverse transcription-polymerase chain reaction (RT-PCR) analysis in spinal cord, dorsal root ganglion, whole brain, cortex, brainstem and cerebellum, but not in pancreas, of transgenic mice. In homozygous transgenic mice, trangene expression increases the total Mfn2/MFN2 transcript level in dorsal root ganglion and in spinal cord to 1.1- and 1.6-fold those of the endogenous mouse mRNA, respectively, as determined by semi-quantitative RT-PCR. (J:173431)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available

References

• Original: J:173431 Cartoni R, et al., Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. Brain. 2010 May;133(Pt 5):1460-9
• All: 1 reference(s)