B6;129S2-Gm2a^tm1Rlp/J

Stock number: 003177
Product name: Gm2a-
Research areas: Neurobiology Research, Research Tools

Description

These Gm2a knock-out mice exhibit neuronal storage of GM2 ganglioside activator protein in restricted regions of the brain.

Detailed description

Mice homozygous for the Gm2a^tm1Rlp 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-Hexa^tm1Rlp/J Stock No. 002367) mice. They also display abnormal storage in the cerebellum and exhibit defects in balance and coordination. Mice homozygous for the Gm2a^tm1Rlp 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).

Development

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

Symbol: Gm2a^tm1Rlp
Name: targeted mutation 1, Richard Proia
MGI accession ID: MGI:1861930
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Gm2a
Marker name: GM2 ganglioside activator protein
Chromosome: 11
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.