MFN2R94Q mice express a flag-tagged human mitofusin 2 (MFN2), containing an R94Q mutation, under direction of the murine Thy1 promoter. These mice may be useful when studying Charcot-Marie-Tooth Neuropathy Type 2 (CMT2).
Robert H Baloh, Cedars Sinai Medical Center
MFN2R94Q transgenic mice contain a murine thymus cell antigen 1, theta (Thy1; Thy1.2) promoter driving expression of a flag-tagged human mitofusin 2 (MFN2) gene integrated on the Y chromosome. The MFN2 gene contains the dominant point mutation, R94Q. Mutations of this residue and neighboring residues in the GTPase domain have been associated with the onset of Charcot-Marie-Tooth disease type 2A (CMT2A) across numerous ethnic backgrounds with a consistently severe early-onset phenotype that, in addition to peripheral neuropathy, may include optic atrophy, spasticity, developmental delay, and brain white matter abnormalities. MFN2R94Q mice have stunted growth, and die prematurely from failure to thrive (25% died by 15 months of age). They have early onset of severe sensorimotor deficits. By 3-months of age, MFN2R94Q mice exhibit a wobbling gait defect and occasionally dragged their hindlimbs. By 10 months, MFN2R94Q mice have severe uncoordinated movements, and hindlimb paw clasping. They display vision loss, altered mitochondrial dynamics, and widespread axonal degeneration.
A 9102 bp transgenic construct was designed containing a murine thymus cell antigen 1, theta (Thy1; Thy1.2) promoter driving expression of a flag-tagged human mitofusin 2 (MFN2) gene. The MFN2 gene contains an R94Q mutation. The linearized construct was microinjected into fertilized C57BL/6J oocytes. MFN2R94Q mice, from founder line 44, were bred to and maintained on a C57BL/6J genetic background. The donating investigator reports that the transgene integrated on the Y Chromosome. Upon arrival at The Jackson Laboratory, sperm was cryopreserved. To establish our live colony, an aliquot of frozen sperm was used to fertilize C57BL/6J oocytes (Stock No. 000664).
|Allele Name||transgene insertion 44, Robert Balo|
|Allele Type||Transgenic (Inserted expressed sequence, Humanized sequence)|
|Allele Synonym(s)||transgene insertion 44, Robert Balo; Tg(Thy1-MFN2*R94Q)44Balo|
|Gene Symbol and Name||Tg(Thy1-MFN2*R94Q)44Balo, transgene insertion 44, Robert Balo|
|Strain of Origin||C57BL/6J|
|Molecular Note||The 9102 bp transgenic construct contains a murine thymus cell antigen 1, theta (Thy1) promoter driving expression of a flag-tagged human mitofusin 2 (MFN2) gene containing an R94Q mutation.|
When maintaining a live colony, hemizygous males may be bred to wildtype females from the colony or to C57BL/6J (Stock No. 000664) females. The donating investigator reports that the transgene integrated on the Y Chromosome. Males die prematurely from failure to thrive (25% died by 15 months of age) and have early onset severe sensorimotor deficits. It is suggested to breed mice prior to 5 months of age.
When using the MFN2R94Q mouse strain in a publication, please cite the originating article(s) and include JAX stock #029745 in your Materials and Methods section.
|Y linked; Hemizygous males and wildtype females for Tg(Thy1-MFN2*)44Balo|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
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