Phenotypes Associated with This Genotype

Genotype
MGI:2668046

• Allelic Composition: Hexb^tm1Grv/Hexb^tm1Grv
• Genetic Background: either: (involves: 129P2/Ola * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * C57L/6J)

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

mortality/aging

premature death ( J:30899 )

• death preceded by dysphagia and neurodegeneration

behavior/neurological

lethargy ( J:30899 )

tremors ( J:30899 )

• mice began to show tremors around 4 months of age

ataxia ( J:30899 )

hindlimb paralysis ( J:30899 )

abnormal sexual interaction ( J:81864 )

♂ • reduction in male mating behavior beginning at 85 days of age

♂ • absence of male mating behavior at 94 days of age

abnormal seizure response to electrical stimulation ( J:30899 )

• preterminal symptoms included both startle and non-startle myoclonus

nervous system

abnormal spinal cord morphology ( J:30899 )

• massive depletion of spinal cord axons, putatively a consequence of neuronal storage of G_M2

abnormal nervous system physiology ( J:30899 )

• accumulation of ganglioside G_M2

• accumulation of glycolipid G_A2

abnormal seizure response to electrical stimulation ( J:30899 )

• preterminal symptoms included both startle and non-startle myoclonus

muscle

muscle weakness ( J:30899 )

reproductive system

abnormal efferent ductules of testis morphology ( J:48608 )

♂ • increased numbers of pale lysosomes in both ciliated and non-ciliated cells of the efferent ducts of the testes

abnormal epididymis morphology ( J:48608 )

♂ • numbers of pale lysosomes were significantly increased throughout the epididymis

enlarged caput epididymis ( J:48608 )

♂ • significantly larger than normal

enlarged corpus epididymis ( J:48608 )

♂ • significantly larger than normal

increased epididymis weight ( J:48608 )

♂ • total weight was larger than controls

abnormal fertility/fecundity ( J:48608 , J:81864 )

• 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 fertilization ( 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