| Primary Identifier | MGI:5476535 | Allele Type | Transgenic |
| Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Tg(Eno2-MFN2*R94Q)L87Ugfm |
| Strain of Origin | (C57BL/6 x DBA/2)F1 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |
