Mouse Genome Informatics
hm
    Hexatm1Grv/Hexatm1Grv
involves: 129P2/Ola * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• had to be closer to objects before reaching out to grasp
• reduced vertical movement at 18-22 months
• develop a low body position and lordosis when walking slowly as they age
• eventually develop a shuffling gait and dragging hind-limbs
• tremors seen in about 88% of mice
• head tremors at about 18 months of age becoming whole body tremors in advanced disease

nervous system
• enlarged neurons due to lysosomal swelling in various regions of the brain and spinal cord
• accumulation of ganglioside GM2
• head tremors at about 18 months of age becoming whole body tremors in advanced disease
• tremors seen in about 88% of mice

vision/eye
• vision impairment starting around 8 to 12 months of age

growth/size
• 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
• dramatic increase in the number of dense staining lysosomes in the initial segment of the epididymis (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
OMIM IDRef(s)
Tay-Sachs Disease; TSD 272800 J:30899