Phenotypes Associated with This Genotype

Genotype
MGI:2176850

• Allelic Composition: Gm2a^tm1Rlp/Gm2a^tm1Rlp
• Genetic Background: involves: 129S4/SvJae * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

impaired passive avoidance behavior ( J:41950 )

• shorter latency to enter a dark chamber 24 hours after foot shock training relative to controls

impaired coordination ( J:41950 )

• significantly impaired performance in a rotorod test

• no improvement in performance over time

nervous system

abnormal brain morphology ( J:41950 )

• Gm2 ganglioside accumulates in the brain at 4 months

• Ga2 ganglioside shows slight accumulations in the brain at 4 months

abnormal limbic system morphology ( J:41950 )

abnormal hypothalamus morphology ( J:41950 )

• pronounced ganglioside accumulations in the hypothalamic nuclei at 5 months

abnormal amygdala morphology ( J:41950 )

• pronounced ganglioside accumulations in the amygdala at 5 months

abnormal entorhinal cortex morphology ( J:41950 )

• pronounced ganglioside accumulations in the entorhinal cortex at 5 months

abnormal cerebral cortex pyramidal cell morphology ( J:41950 )

• ganglioside accumulations in large pyramidal neurons in the middle layer of the cerebral cortex at 5 months

abnormal olfactory cortex morphology ( J:41950 )

• pronounced ganglioside accumulations in the piriform area at 5 months

abnormal cerebellar cortex morphology ( J:41950 )

abnormal Purkinje cell morphology ( J:41950 )

• ganglioside storage at 5 months

abnormal cerebellar granule layer morphology ( J:41950 )

• ganglioside storage in glial cells at 5 months

abnormal cerebellar granule cell morphology ( J:41950 )

• ganglioside storage at 5 months

abnormal cerebellar molecular layer ( J:41950 )

• ganglioside storage in glial cells at 5 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
GM2 gangliosidosis, AB variant		DOID:4795	OMIM:272750	J:41950