Phenotypes Associated with This Genotype

Genotype
MGI:3581542

• Allelic Composition: Hexa^tm1Cota/Hexa^tm1Cota
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

nervous system

abnormal neuron morphology ( J:30435 )

• less than 1% of neurons in cerebral cortex were ballooned at 60 days of age

• contained secondary lysosomes containing poorly defined lamellar structures and lipofuscin like material

• 10% of neurons in neocortex were ballooned by 150 days of age and contained dense vacuoles in cytoplasm

liver/biliary system

abnormal hepatocyte morphology ( J:30435 )

• at 150 days of age, generally normal liver contained rare clusters of hepatocytes with abnormal expansions of the lysosomal apparatus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Tay-Sachs disease		DOID:3320	OMIM:272800	J:30435