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Phenotypes Associated with This Genotype
Genotype
MGI:2177433
Allelic
Composition
Hexatm1Rlp/Hexatm1Rlp
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hexatm1Rlp mutation (1 available); any Hexa mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• accumulation of GM2 gangliosides levels reach 15% of total gangliosides
• levels reach 15% of total gangliosides
• number of storage neurons with membranous cytoplasmic bodies increases with age
• distribution of storage neurons found in cerebral cortex, piriform and entorhinal cortices, CA3, amygdala, mammillary bodies, septal nuclei, and nuclei in the hypothalamus

Mouse Models of Human Disease
OMIM ID Ref(s)
Tay-Sachs Disease; TSD 272800 J:21008


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory