These loxP-flanked knockin mice carry an amino acid substitution, R1207H in exon 24, as well as loxP sites flanking exons 24 to 28 of the Eif4g1 gene. Mutations in Eif4g1, a translation initiation factor, are associated with susceptibility to Parkinson's disease.
Kuldip Dave, The Michael J. Fox Foundation
Eif4g1 or eukaryotic translation initiation factor 4, gamma 1 is one of a complex of initiation factors associated with mRNA posttranscriptional modification.
An amino acid substitution, R1205H, found in Eif4g1 is associated with susceptibility to Parkinson's in humans. This conditional knockin strain carries the corresponding mutation in the mouse, R1207H in exon 24, as well as loxP sites flanking exons 24 to 28. Homozygous mice are viable and fertile and express the R1207H mutation. Cre-mediated recombination removes exons 24-28 resulting in a null allele. This strain may be useful for studying Parkinson's disease.
The targeting vector was designed (by site-directed mutagenesis) to insert the arginine to histidine amino acid substitution at position 1207 (R1207H) (human 1205) into exon 24 and place a loxP site upstream of exon 24, followed by an FRT-flanked neomycin cassette and a loxP site downstream of exon 28. The construct was electroporated into C57BL/6 derived Bruce4 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts. The resulting chimeric animals were tested for germline transmission. The mice were then crossed to FlpE-deleter mice on a C57BL/6 genetic background, to remove the neomycin cassette. Upon arrival at The Jackson Laboratory, the mice were crossed to C57BL/6J (Stock No. 000664) at least once to establish the colony.
|Allele Name||targeted mutation 1.1, The Michael J Fox Foundation|
|Allele Type||Targeted (Conditional ready (e.g. floxed), Humanized sequence)|
|Gene Symbol and Name||Eif4g1, eukaryotic translation initiation factor 4, gamma 1|
|Strain of Origin||B6.Cg-Thy1a|
|Molecular Note||The targeting vector was designed (by site-directed mutagenesis) to insert the arginine to histidine amino acid substitution at position 1207 (R1207H) (human 1205) into exon 24 and place a loxP site upstream of exon 24, followed by an FRT-flanked neomycin cassette and a loxP site downstream of exon 28. Flp-mediated recombination removed the neomycin cassette.|
While maintaining a live colony, these mice are bred as homozygotes.
When using the Eif4g1R1207H mouse strain in a publication, please cite the originating article(s) and include JAX stock #021827 in your Materials and Methods section.
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