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Phenotypes Associated with This Genotype
Genotype
MGI:2177468
Allelic
Composition
Hexbtm1Rlp/Hexbtm1Rlp
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hexbtm1Rlp mutation (1 available); any Hexb mutation (64 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

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

behavior/neurological
• beginning at 3 months and progressing with age (J:29268)
• beginning at 3 months and progressing with age (J:29268)
• progressive loss of righting response with age (J:53080)
• progressive loss of righting response with age (J:53080)
• by 4 - 5 months of age (J:190450)
• by 4 - 5 months of age (J:190450)
• performance in a rotarod test is impaired at 9 weeks and declines very rapidly after 11 weeks of age (J:29268)
• at 16 weeks of age, homozygous mice are unable to stay on a rotarod (J:29268)
• performance in a rotarod test is impaired at 9 weeks and declines very rapidly after 11 weeks of age (J:29268)
• at 16 weeks of age, homozygous mice are unable to stay on a rotarod (J:29268)
• by 4 - 5 months of age (J:190450)
• by 4 - 5 months of age (J:190450)
• spastic movements of hind limbs starting around 5 months (J:29268)
• near lack of hind limb movement by 5 months and fore limbs also afflicted (J:29268)
• spastic movements of hind limbs starting around 5 months (J:29268)
• near lack of hind limb movement by 5 months and fore limbs also afflicted (J:29268)

nervous system
• neuronal storage vacuoles (PAS positive) found throughout the central nervous system (J:29268)
• vacuoles very abundant in anterior horn motor neurons of the spinal cord (J:29268)
• PAS positive granules also found in neuropil and dendrites (J:29268)
• no granules found in cerebral and cerebellar white matter, nerve fiber tracts, spinal roots or optic nerves (J:29268)
• neuronal storage vacuoles (PAS positive) found throughout the central nervous system (J:29268)
• vacuoles very abundant in anterior horn motor neurons of the spinal cord (J:29268)
• PAS positive granules also found in neuropil and dendrites (J:29268)
• no granules found in cerebral and cerebellar white matter, nerve fiber tracts, spinal roots or optic nerves (J:29268)

muscle
• at 5 months of age (J:29268)
• at 5 months of age (J:29268)

liver/biliary system
• storage vacuoles found in cells in hepatic sinusoids (J:29268)
• storage vacuoles found in cells in hepatic sinusoids (J:29268)
• PAS positive storage vacuoles found (J:29268)
• PAS positive storage vacuoles found (J:29268)

renal/urinary system
• storage vacuoles found in epithelial cells of the proximal tubules (J:29268)
• storage vacuoles found in epithelial cells of the proximal tubules (J:29268)

growth/size/body
• by 4 - 5 months of age (J:190450)
• by 4 - 5 months of age (J:190450)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory