These mice carry a targeted mutation in which exons 24 through 28 are deleted. 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. Mutations in the human EIF4G1 gene have been identified in patients with familial Parkinson disease.
This strain may be useful for studying Parkinson's disease. These mice carry a targeted mutation in which exons 24 through 28 are deleted. Heterozygotes are viable and fertile. The donating investigator has not attempted to make this strain homozygous. This strain is currently being characterized. We will modify the strain description as published results become available.
The targeting vector was designed (by site-directed mutagenesis) to insert an 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.
The FLP recombinase transgene was then bred out from the line. The mice were maintained on the C57BL/6 background. Upon arrival at The Jackson Laboratory, the mice (Stock No. 021827) were crossed to C57BL/6J (Stock No. 000664) at least once. Male (Stock No. 021827) mice were then crossed to female Cre deleter mice on the B6 background (Stock No. 008454) to excise exons 24 thorough 28. The mice were then bred to remove the Cre recombinase allele.
|Allele Name||targeted mutation 1.2, The Michael J Fox Foundation|
|Allele Type||Targeted (Null/Knockout)|
|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. Cre-mediated recombination removed the floxed exons 24-28.|
When maintaining a live colony, these mice can be bred as heterozygotes.
When using the B6.Cg-Eif4g1tm1.2Mjff/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #024521 in your Materials and Methods section.