Mouse Genome Informatics
cx
    Hexbtm1Rlp/Hexbtm1Rlp
Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0

involves: 129S4/SvJae * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Localized glycolipid storage and microgliosis in Hexbtm1Rlp/Hexbtm1Rlp Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa/0 mice

mortality/aging
• at 6 months of age mice do not show overt signs of disease but deteriorate rapidly after this
• average life span of 373 to 404 days
• when given doxycycline starting at 5 weeks of age, average life span is 172.5 days

nervous system
• activation of microglia accompanies glycoconjugate storage
• glycoconjugate storage is seen in the many areas of the brain but not in the cerebral cortex or most other cerebral structures
• substantial glycoconjugate storage is seen in the hindbrain and ventral spinal cord by one year of age
• glycoconjugate storage is increased following doxycycline treatment
• decrease in the density of interneurons in the ventral horn

behavior/neurological
• when given doxycycline starting at 5 weeks of age, a dramatic decrease in motor performance is seen starting at 20 weeks of age
• progressive tremor develops after 6 months of age
• tremors are milder than in mutant mice not expressing the transgene
• develop progressive tremor from 17-19 weeks of age when given doxycycline starting at 5 weeks of age
• hindlimbs appear uncoordinated when walking
• seen when mice are at their humane endpoint, when given doxycycline starting at 5 weeks of age

muscle
• progressive limb hypertonia after 6 months of age
• by 1 year of age limb hypertonicity restricts movement

growth/size/body
• when given doxycycline starting at 5 weeks of age, weight plateaus at 20 weeks of age and then starts to decrease

hematopoietic system
• activation of microglia accompanies glycoconjugate storage

immune system
• activation of microglia accompanies glycoconjugate storage

Mouse Models of Human Disease
OMIM IDRef(s)
Sandhoff Disease 268800 J:190450