About   Help   FAQ
Phenotypes Associated with This Genotype
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hexbtm1Rlp mutation (1 available); any Hexb mutation (76 available)
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
• vacuoles very abundant in anterior horn motor neurons of the spinal cord
• PAS positive granules also found in neuropil and dendrites
• neuronal storage vacuoles (PAS positive) found throughout the central nervous system
• 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
DO ID OMIM ID(s) Ref(s)
Sandhoff disease DOID:3323 OMIM:268800
J:29268 , J:190450

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.12
The Jackson Laboratory