Mouse Genome Informatics
hm
    Hexbtm1Rlp/Hexbtm1Rlp
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Hexbtm1Rlp/Hexbtm1Rlp mice exhibit Sandhoff disease phenotypes that are improved in Hexbtm1Rlp/Hexbtm1Rlp Ccl3tm1Unc/Ccl3tm1Unc mice

mortality/aging
• survival to about 102 days of age

immune system
• elevated circulating antibody levels
• IgG deposition on the surface of neurons
• Il4 levels in serum are elevated after 14 weeks of age
• peripheral phagocytes start appearing in the CNS after 3 months of age
• found foamy cells characteristic of macrophage found in the CNS at 4 months as are amoeboid brain macrophage

behavior/neurological
• wide-opening stance of hind limbs

adipose tissue

muscle

nervous system
• peripheral phagocytes start appearing in the CNS after 3 months of age
• found foamy cells characteristic of macrophage found in the CNS at 4 months as are amoeboid brain macrophage
• with small nuclei

cellular
• in the thalamus

homeostasis/metabolism
• Il4 levels in serum are elevated after 14 weeks of age

growth/size/body

hematopoietic system
• elevated circulating antibody levels
• IgG deposition on the surface of neurons

Mouse Models of Human Disease
OMIM IDRef(s)
Sandhoff Disease 268800 J:87617