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Phenotypes Associated with This Genotype
Genotype
MGI:2668037
Allelic
Composition
Hexatm1Grv/Hexatm1Grv
Genetic
Background
involves: 129P2/Ola * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hexatm1Grv mutation (0 available); any Hexa mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• had to be closer to objects before reaching out to grasp (J:88460)
• had to be closer to objects before reaching out to grasp (J:88460)
• reduced vertical movement at 18-22 months (J:88460)
• reduced vertical movement at 18-22 months (J:88460)
• develop a low body position and lordosis when walking slowly as they age (J:88460)
• eventually develop a shuffling gait and dragging hind-limbs (J:88460)
• develop a low body position and lordosis when walking slowly as they age (J:88460)
• eventually develop a shuffling gait and dragging hind-limbs (J:88460)
• head tremors at about 18 months of age becoming whole body tremors in advanced disease (J:88460)
• tremors seen in about 88% of mice (J:88460)
• head tremors at about 18 months of age becoming whole body tremors in advanced disease (J:88460)
• tremors seen in about 88% of mice (J:88460)

nervous system
• enlarged neurons due to lysosomal swelling in various regions of the brain and spinal cord (J:88460)
• enlarged neurons due to lysosomal swelling in various regions of the brain and spinal cord (J:88460)
• accumulation of ganglioside GM2 (J:30899)
• accumulation of ganglioside GM2 (J:30899)
• head tremors at about 18 months of age becoming whole body tremors in advanced disease (J:88460)
• tremors seen in about 88% of mice (J:88460)
• head tremors at about 18 months of age becoming whole body tremors in advanced disease (J:88460)
• tremors seen in about 88% of mice (J:88460)

vision/eye
• vision impairment starting around 8 to 12 months of age (J:88460)
• vision impairment starting around 8 to 12 months of age (J:88460)

growth/size/body
• tend to lose weight over lifetime compared to controls (J:88460)
• weight loss starting around 17 months of age in females and 19 months in males (J:88460)
• tend to lose weight over lifetime compared to controls (J:88460)
• weight loss starting around 17 months of age in females and 19 months in males (J:88460)

reproductive system
• dramatic increase in the number of dense staining lysosomes in the initial segment of the epididymis (J:48608)
• 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 (J:48608)
• females produced litters of normal size (J:48608)
• although males were fertile past one year of age, they sired litters of smaller than normal size (J:48608)
• females produced litters of normal size (J:48608)

Mouse Models of Human Disease
OMIM ID Ref(s)
Tay-Sachs Disease; TSD 272800 J:30899


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory