Mouse Genome Informatics
cx
    Fcer1gtm1Rav/Fcer1gtm1Rav
Hexbtm1Rlp/Hexbtm1Rlp

involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• survival to about 130 days of age

homeostasis/metabolism
• ganglioside accumulation as in singly homozygous Hexbtm1Rlp

immune system
• slightly elevated circulating antibody levels but less than in singly homozygous Hexbtm1Rlp

behavior/neurological
N
• able to open their limbs and move actively when lifted by their tails
• improved coordination in a rotarod test relative to singly homozygous Hexbtm1Rlp until 12 weeks of age when deteriorating performance is seen

nervous system
N
• minimal Purkinje cell degeneration

cellular
• reduced apoptosis in the brain relative to singly homozygous Hexbtm1Rlp

hematopoietic system
• slightly elevated circulating antibody levels but less than in singly homozygous Hexbtm1Rlp

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