Mouse Genome Informatics
involves: 129S4/SvJae * C57BL/6
phenotype observed in females
phenotype observed in males
N normal phenotype

Spinal cord pathology comparison of Hexbtm1Rlp/Hexbtm1Rlp B4galnt1tm1Rlp/B4galnt1tm1Rlp and Hexbtm1Rlp/Hexbtm1Rlp mice

• died around 120 to 150 days of age (J:53080)
• average life span of 127 days (J:190450)

• beginning at 3 months and progressing with age
• progressive loss of righting response with age
• by 4 - 5 months of age
• 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
• by 4 - 5 months of age
• spastic movements of hind limbs starting around 5 months
• near lack of hind limb movement by 5 months and fore limbs also afflicted

nervous system
• 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

• at 5 months of age

liver/biliary system
• storage vacuoles found in cells in hepatic sinusoids
• PAS positive storage vacuoles found

renal/urinary system
• storage vacuoles found in epithelial cells of the proximal tubules

• by 4 - 5 months of age

Mouse Models of Human Disease
Sandhoff Disease 268800 J:29268 , J:190450