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Phenotypes Associated with This Genotype
Genotype
MGI:3579384
Allelic
Composition
Fcer1gtm1Rav/Fcer1gtm1Rav
Hexbtm1Rlp/Hexbtm1Rlp
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fcer1gtm1Rav mutation (7 available); any Fcer1g mutation (14 available)
Hexbtm1Rlp mutation (1 available); any Hexb mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• survival to about 130 days of age (J:87617)
• survival to about 130 days of age (J:87617)

homeostasis/metabolism
• ganglioside accumulation as in singly homozygous Hexbtm1Rlp (J:87617)
• ganglioside accumulation as in singly homozygous Hexbtm1Rlp (J:87617)

immune system
• slightly elevated circulating antibody levels but less than in singly homozygous Hexbtm1Rlp (J:87617)
• slightly elevated circulating antibody levels but less than in singly homozygous Hexbtm1Rlp (J:87617)

behavior/neurological
N
• able to open their limbs and move actively when lifted by their tails (J:87617)
• able to open their limbs and move actively when lifted by their tails (J:87617)
• improved coordination in a rotarod test relative to singly homozygous Hexbtm1Rlp until 12 weeks of age when deteriorating performance is seen (J:87617)
• improved coordination in a rotarod test relative to singly homozygous Hexbtm1Rlp until 12 weeks of age when deteriorating performance is seen (J:87617)

nervous system
N
• minimal Purkinje cell degeneration (J:87617)
• minimal Purkinje cell degeneration (J:87617)

cellular
• reduced apoptosis in the brain relative to singly homozygous Hexbtm1Rlp (J:87617)
• reduced apoptosis in the brain relative to singly homozygous Hexbtm1Rlp (J:87617)

hematopoietic system
• slightly elevated circulating antibody levels but less than in singly homozygous Hexbtm1Rlp (J:87617)
• slightly elevated circulating antibody levels but less than in singly homozygous Hexbtm1Rlp (J:87617)

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
02/02/2016
MGI 6.02
The Jackson Laboratory