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Transgene Detail
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
Strain of Origin:  (C57BL/6 x DBA/2)F1
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Tg(Eno2-MFN2*R94Q)L87Ugfm expresses 1 gene
Mutation detailsThis 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)
View phenotypes and curated references for all genotypes (concatenated display).
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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
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)

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MGI 6.22
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