Gm2 Activator Deficiency Disease Mouse

Also known as:Gm2atm1Rlp ,Gm2a KO mouse, AB Variant of GM2 gangliosidosis mouseGm2a KO mice 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 disease mice. They also display abnormal ganglioside storage in the cerebellum and exhibit defects in balance and coordination. Mice homozygous for theGm2atm1Rlp targeted mutation serve as a model of the human genetic disease known as the AB Variant of GM2-gangliosidosis or GM2 activator deficiency (OMIM#272750). Learn more onPubMed.Mice can be obtained from Jackson Labs.
Source: NIDDK Research Resources - Category: Endocrinology Source Type: research