Phenotypes Associated with This Genotype

Genotype
MGI:2177468

• Allelic Composition: Hexb^tm1Rlp/Hexb^tm1Rlp
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

Spinal cord pathology comparison of Hexb^tm1Rlp/Hexb^tm1Rlp B4galnt1^tm1Rlp/B4galnt1^tm1Rlp and Hexb^tm1Rlp/Hexb^tm1Rlp mice

mortality/aging

premature death ( J:53080 , J:190450 )

• died around 120 to 150 days of age (J:53080)

• average life span of 127 days (J:190450)

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:29268 )

• beginning at 3 months and progressing with age

impaired righting response ( J:53080 )

• progressive loss of righting response with age

tremors ( J:190450 )

• by 4 - 5 months of age

impaired coordination ( J:29268 )

• performance in a rotarod test is impaired at 9 weeks and declines very rapidly after 11 weeks of age

• at 16 weeks of age, homozygous mice are unable to stay on a rotarod

abnormal gait ( J:29268 )

• spastic movements of hind limbs starting around 5 months

• near lack of hind limb movement by 5 months and fore limbs also afflicted

bradykinesia ( J:190450 )

• by 4 - 5 months of age

nervous system

abnormal neuron morphology ( J:29268 )

• neuronal storage vacuoles (PAS positive) found throughout the central nervous system

• vacuoles very abundant in anterior horn motor neurons of the spinal cord

• PAS positive granules also found in neuropil and dendrites

• no granules found in cerebral and cerebellar white matter, nerve fiber tracts, spinal roots or optic nerves

muscle

muscular atrophy ( J:29268 )

• at 5 months of age

liver/biliary system

abnormal liver morphology ( J:29268 )

• storage vacuoles found in cells in hepatic sinusoids

abnormal hepatocyte morphology ( J:29268 )

• PAS positive storage vacuoles found

renal/urinary system

abnormal proximal convoluted tubule morphology ( J:29268 )

• storage vacuoles found in epithelial cells of the proximal tubules

growth/size/body

weight loss ( J:190450 )

• by 4 - 5 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sandhoff disease		DOID:3323	OMIM:268800	J:29268 , J:190450