Phenotypes Associated with This Genotype

Genotype
MGI:3579804

• Allelic Composition: Ccl3^tm1Unc/Ccl3^tm1Unc; Hexb^tm1Rlp/Hexb^tm1Rlp
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Hexb^tm1Rlp/Hexb^tm1Rlp mice exhibit Sandhoff disease phenotypes that are improved in Hexb^tm1Rlp/Hexb^tm1Rlp Ccl3^tm1Unc/Ccl3^tm1Unc mice

mortality/aging

premature death ( J:90687 )

• life span of approximately 156 days (maximum 175 days)

behavior/neurological

abnormal motor coordination/balance ( J:90687 )

• improved performance on a rotarod compared to mice homozygous for the Hexb allele alone

abnormal righting response ( J:90687 )

• improved relative to mice homozygous for the Hexb allele alone

growth/size/body

growth/size/body region phenotype ( J:90687 )

N • maintained body weight through 19 weeks of age

immune system

abnormal tumor necrosis factor level ( J:90687 )

• 87% reduction of TNF alpha in the spinal cord relative to levels seen in mice homozygous only for Hexb^tm1Rlb

CNS inflammation ( J:90687 )

• fewer cells infiltrating the CNS of 4 month old mice

cellular

cellular phenotype ( J:90687 )

N • near absence of apoptosis in the central nervous system

nervous system

CNS inflammation ( J:90687 )

• fewer cells infiltrating the CNS of 4 month old mice

homeostasis/metabolism

abnormal tumor necrosis factor level ( J:90687 )

• 87% reduction of TNF alpha in the spinal cord relative to levels seen in mice homozygous only for Hexb^tm1Rlb

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sandhoff disease		DOID:3323	OMIM:268800	J:90687