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Phenotypes Associated with This Genotype
Genotype
MGI:3579804
Allelic
Composition
Ccl3tm1Unc/Ccl3tm1Unc
Hexbtm1Rlp/Hexbtm1Rlp
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccl3tm1Unc mutation (1 available); any Ccl3 mutation (2 available)
Hexbtm1Rlp mutation (1 available); any Hexb mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

mortality/aging
• life span of approximately 156 days (maximum 175 days) (J:90687)
• life span of approximately 156 days (maximum 175 days) (J:90687)

behavior/neurological
• improved performance on a rotarod compared to mice homozygous for the Hexb allele alone (J:90687)
• improved performance on a rotarod compared to mice homozygous for the Hexb allele alone (J:90687)
• improved relative to mice homozygous for the Hexb allele alone (J:90687)
• improved relative to mice homozygous for the Hexb allele alone (J:90687)

growth/size/body
N
• maintained body weight through 19 weeks of age (J:90687)
• maintained body weight through 19 weeks of age (J:90687)

immune system
• 87% reduction of TNF alpha in the spinal cord relative to levels seen in mice homozygous only for Hexb (J:90687)
• 87% reduction of TNF alpha in the spinal cord relative to levels seen in mice homozygous only for Hexb (J:90687)
• fewer cells infiltrating the CNS of 4 month old mice (J:90687)
• fewer cells infiltrating the CNS of 4 month old mice (J:90687)

cellular
N
• near absence of apoptosis in the central nervous system (J:90687)
• near absence of apoptosis in the central nervous system (J:90687)

nervous system
• fewer cells infiltrating the CNS of 4 month old mice (J:90687)
• fewer cells infiltrating the CNS of 4 month old mice (J:90687)

homeostasis/metabolism
• 87% reduction of TNF alpha in the spinal cord relative to levels seen in mice homozygous only for Hexb (J:90687)
• 87% reduction of TNF alpha in the spinal cord relative to levels seen in mice homozygous only for Hexb (J:90687)

Mouse Models of Human Disease
OMIM ID Ref(s)
Sandhoff Disease 268800 J:90687


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
02/02/2016
MGI 6.02
The Jackson Laboratory