Phenotypes Associated with This Genotype

Genotype
MGI:2668037

• Allelic Composition: Hexa^tm1Grv/Hexa^tm1Grv
• Genetic Background: involves: 129P2/Ola * C57BL/6J

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

behavior/neurological

abnormal placing response ( J:88460 )

• had to be closer to objects before reaching out to grasp

abnormal gait ( J:88460 )

• develop a low body position and lordosis when walking slowly as they age

• eventually develop a shuffling gait and dragging hind-limbs

decreased vertical activity ( J:88460 )

• reduced vertical movement at 18-22 months

convulsive seizures ( J:88460 )

• head tremors at about 18 months of age becoming whole body tremors in advanced disease

• tremors seen in about 88% of mice

nervous system

abnormal neuron morphology ( J:88460 )

• enlarged neurons due to lysosomal swelling in various regions of the brain and spinal cord

abnormal nervous system physiology ( J:30899 )

• accumulation of ganglioside G_M2

convulsive seizures ( J:88460 )

• head tremors at about 18 months of age becoming whole body tremors in advanced disease

• tremors seen in about 88% of mice

vision/eye

abnormal vision ( J:88460 )

• vision impairment starting around 8 to 12 months of age

growth/size/body

weight loss ( J:88460 )

• tend to lose weight over lifetime compared to controls

• weight loss starting around 17 months of age in females and 19 months in males

reproductive system

abnormal epididymis morphology ( J:48608 )

♂ • dramatic increase in the number of dense staining lysosomes in the initial segment of the epididymis

decreased litter size ( J:48608 )

• although males were fertile past one year of age, they sired litters of smaller than normal size

• females produced litters of normal size

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Tay-Sachs disease		DOID:3320	OMIM:272800	J:30899