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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hexbtm1Grv
targeted mutation 1, Roy A Gravel
MGI:2429701
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hexbtm1Grv/Hexbtm1Grv either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J) MGI:2668046


Genotype
MGI:2668046
hm1
Allelic
Composition
Hexbtm1Grv/Hexbtm1Grv
Genetic
Background
either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hexbtm1Grv mutation (0 available); any Hexb mutation (91 available)
phenotype observed in females
phenotype observed in males
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
• absence of male mating behavior at 94 days of age
• 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
• numbers of pale lysosomes were significantly increased throughout the epididymis
• significantly larger than normal
• significantly larger than normal
• total weight was larger than controls
• 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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Sandhoff disease DOID:3323 OMIM:268800
J:30899





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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory