Phenotypes Associated with This Genotype

Genotype
MGI:6507051

• Allelic Composition: Hexb^lysd/Hexb^lysd
• Genetic Background: B6.Cg-Hexb^lysd/J

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

homeostasis/metabolism

abnormal lipid homeostasis ( J:301674 )

behavior/neurological

tremors ( J:301674 )

• head tremor presents as a results of neurodegeneration with a median time of onset on the C67BL/6J background of 3.8 months

cellular

abnormal vacuole morphology ( J:301674 )

• cytoplasmic vacuolation is found in CNS and peripheral neurons, epithelia of the gall bladder, bile duct, denial vesicle, epididymides, renal tubes and bronchia, and in splenic phagocytes

abnormal lysosome morphology ( J:301674 )

• neuronal cytoplasm has many lysosomes distended with inspissated material

nervous system

neurodegeneration ( J:301674 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sandhoff disease		DOID:3323	OMIM:268800	J:301674