Mouse Genome Informatics
hm1
    Hexbtm1Grv/Hexbtm1Grv
either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• death preceded by dysphagia and neurodegeneration

behavior/neurological
• mice began to show tremors around 4 months of age
• reduction in male mating behavior beginning at 85 days of age (J:81864)
• absence of male mating behavior at 94 days of age (J:81864)
• preterminal symptoms included both startle and non-startle myoclonus

nervous system
• massive depletion of spinal cord axons, putatively a consequence of neuronal storage of GM2
• accumulation of ganglioside GM2
• accumulation of glycolipid GA2
• preterminal symptoms included both startle and non-startle myoclonus

muscle

reproductive system
• increased numbers of pale lysosomes in both ciliated and non-ciliated cells of the efferent ducts of the testes (J:48608)
• numbers of pale lysosomes were significantly increased throughout the epididymis (J:48608)
• significantly larger than normal (J:48608)
• significantly larger than normal (J:48608)
• total weight was larger than controls (J:48608)
• males sired normal sized litters between 6 and 9 weeks of age (J:48608)
• appear to be infertile by 10-12 weeks of age (J:48608)
• females are fertile up to 56-63 days of age but are infertile at 85 days of age (J:81864)
• number of ova recovered from females is lower than in controls (J:81864)
• males were fertile up to 70 days of age, but then exhibited a decline in mating behavior (J:81864)
• impaired ability of spermatozoa to fertilize in vitro

endocrine/exocrine glands
• increased numbers of pale lysosomes in both ciliated and non-ciliated cells of the efferent ducts of the testes (J:48608)

Mouse Models of Human Disease
OMIM IDRef(s)
Sandhoff Disease 268800 J:30899