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Phenotypes Associated with This Genotype
Genotype
MGI:3579385
Allelic
Composition
Hexbtm1Rlp/Hexbtm1Rlp
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hexbtm1Rlp mutation (1 available); any Hexb mutation (74 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
• survival to about 102 days of age

immune system
• elevated circulating antibody levels
• IgG deposition on the surface of neurons
• Il4 levels in serum are elevated after 14 weeks of age
• 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
• wide-opening stance of hind limbs

adipose tissue

muscle

nervous system
• increased apoptosis in the thalamus
• 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
• with small nuclei

cellular
• increased apoptosis in the thalamus

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

hematopoietic system
• elevated circulating antibody levels
• IgG deposition on the surface of neurons

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


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
08/17/2016
MGI 6.05
The Jackson Laboratory