These Gm2a knock-out mice exhibit neuronal storage of GM2 ganglioside activator protein in restricted regions of the brain.
Richard L Proia, National Institutes of Health
Mice homozygous for the Gm2atm1Rlp targeted mutation demonstrate neuronal storage of GM2 ganglioside in restricted regions of the brain (piriform, entorhinal cortex, amygdala, and hypothalmic nuclei) reminiscent of the asymptomatic Tay-Sachs model (B6;129S4-Hexatm1Rlp/J Stock No. 002367) mice. They also display abnormal storage in the cerebellum and exhibit defects in balance and coordination. Mice homozygous for the Gm2atm1Rlp targeted mutation serve as a model of the human genetic disease known as the AB Variant of GM2-gangliosidosis or GM2 activator deviciency (OMIM#272750).
A targeting vector containing neomycin resistance and Herpes simplex virus thymidine kinase genes was used to disrupt Gm2a exon 3, intron 3 and a portion of exon 4 in 129S2/SvPas-derived D3 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts.
|Allele Name||targeted mutation 1, Richard Proia|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Gm2a, GM2 ganglioside activator protein|
|Strain of Origin||129S4/SvJae|
|Molecular Note||A neomycin resistance cassette replaced 1-kb of the gene, resulting in the deletion of exon 3, intron 3, and part of exon 4. Northern blots of testis and kidney from homozygous mutant mice showed no detectable transcript for the targeted gene.|
|Mutations Made By|| |
Richard Proia, National Institutes of Health
The strain is maintained by breeding homozygotes. Reproduction is good. Expected coat color from breeding:White Bellied Agouti
When using the Gm2a- mouse strain in a publication, please cite the originating article(s) and include JAX stock #003177 in your Materials and Methods section.