Phenotypes Associated with This Genotype

Genotype
MGI:3579384

• Allelic Composition: Fcer1g^tm1Rav/Fcer1g^tm1Rav; Hexb^tm1Rlp/Hexb^tm1Rlp
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

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

mortality/aging

premature death ( J:87617 )

• survival to about 130 days of age

homeostasis/metabolism

abnormal lipid level ( J:87617 )

• ganglioside accumulation as in singly homozygous Hexb^tm1Rlp

immune system

increased immunoglobulin level ( J:87617 )

• slightly elevated circulating antibody levels but less than in singly homozygous Hexb^tm1Rlp

behavior/neurological

behavior/neurological phenotype ( J:87617 )

N • able to open their limbs and move actively when lifted by their tails

impaired coordination ( J:87617 )

• improved coordination in a rotarod test relative to singly homozygous Hexb^tm1Rlp until 12 weeks of age when deteriorating performance is seen

nervous system

nervous system phenotype ( J:87617 )

N • minimal Purkinje cell degeneration

cellular

decreased apoptosis ( J:87617 )

• reduced apoptosis in the brain relative to singly homozygous Hexb^tm1Rlp

hematopoietic system

increased immunoglobulin level ( J:87617 )

• slightly elevated circulating antibody levels but less than in singly homozygous Hexb^tm1Rlp

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sandhoff disease		DOID:3323	OMIM:268800	J:87617