Phenotypes Associated with This Genotype

Genotype
MGI:3579385

• Allelic Composition: 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:87617 )

• survival to about 102 days of age

immune system

increased immunoglobulin level ( J:87617 )

• elevated circulating antibody levels

• IgG deposition on the surface of neurons

increased circulating interleukin-4 level ( J:87617 )

• Il4 levels in serum are elevated after 14 weeks of age

CNS inflammation ( J:90687 )

• peripheral phagocytes start appearing in the CNS after 3 months of age

• found foamy cells characteristic of macrophage found in the CNS at 4 months as are amoeboid brain macrophage

behavior/neurological

limb grasping ( J:87617 )

abnormal posture ( J:87617 )

• wide-opening stance of hind limbs

decreased locomotor activity ( J:87617 )

adipose tissue

decreased total body fat amount ( J:87617 )

• lean body

muscle

muscular atrophy ( J:87617 )

nervous system

increased forebrain apoptosis ( J:87617 )

• increased apoptosis in the thalamus

CNS inflammation ( J:90687 )

• peripheral phagocytes start appearing in the CNS after 3 months of age

• found foamy cells characteristic of macrophage found in the CNS at 4 months as are amoeboid brain macrophage

Purkinje cell degeneration ( J:87617 )

• with small nuclei

cellular

increased forebrain apoptosis ( J:87617 )

• increased apoptosis in the thalamus

homeostasis/metabolism

increased circulating interleukin-4 level ( J:87617 )

• Il4 levels in serum are elevated after 14 weeks of age

hematopoietic system

increased immunoglobulin level ( J:87617 )

• elevated circulating antibody levels

• IgG deposition on the surface of neurons

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