Mouse Genome Informatics
hm
    Gm2atm1Rlp/Gm2atm1Rlp
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• shorter latency to enter a dark chamber 24 hours after foot shock training relative to controls
• significantly impaired performance in a rotorod test
• no improvement in performance over time

nervous system
• Gm2 ganglioside accumulates in the brain at 4 months
• Ga2 ganglioside shows slight accumulations in the brain at 4 months
• pronounced ganglioside accumulations in the hypothalamic nuclei at 5 months
• pronounced ganglioside accumulations in the amygdala at 5 months
• pronounced ganglioside accumulations in the entorhinal cortex at 5 months
• ganglioside accumulations in large pyramidal neurons in the middle layer of the cerebral cortex at 5 months
• pronounced ganglioside accumulations in the piriform area at 5 months
• ganglioside storage at 5 months
• ganglioside storage in glial cells at 5 months
• ganglioside storage at 5 months
• ganglioside storage in glial cells at 5 months

Mouse Models of Human Disease
OMIM IDRef(s)
Gm2-Gangliosidosis, Ab Variant 272750 J:41950