Phenotypes Associated with This Genotype

Genotype
MGI:2177433

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

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

nervous system

abnormal brain morphology ( J:21008 )

• accumulation of G_M2 gangliosides levels reach 15% of total gangliosides

• levels reach 15% of total gangliosides

abnormal neuron morphology ( J:21008 )

• number of storage neurons with membranous cytoplasmic bodies increases with age

• distribution of storage neurons found in cerebral cortex, piriform and entorhinal cortices, CA3, amygdala, mammillary bodies, septal nuclei, and nuclei in the hypothalamus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Tay-Sachs disease		DOID:3320	OMIM:272800	J:21008