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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 (7 available)
Hexbtm1Rlp mutation (1 available); any Hexb mutation (76 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)

behavior/neurological
• improved performance on a rotarod compared to mice homozygous for the Hexb allele alone
• improved relative to mice homozygous for the Hexb allele alone

growth/size/body
N
• maintained body weight through 19 weeks of age

immune system
• 87% reduction of TNF alpha in the spinal cord relative to levels seen in mice homozygous only for Hexbtm1Rlb
• fewer cells infiltrating the CNS of 4 month old mice

cellular
N
• near absence of apoptosis in the central nervous system

nervous system
• fewer cells infiltrating the CNS of 4 month old mice

homeostasis/metabolism
• 87% reduction of TNF alpha in the spinal cord relative to levels seen in mice homozygous only for Hexbtm1Rlb

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Sandhoff disease DOID:3323 OMIM: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
11/14/2017
MGI 6.11
The Jackson Laboratory