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Phenotypes Associated with This Genotype
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hexatm1Cota mutation (0 available); any Hexa mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• less than 1% of neurons in cerebral cortex were ballooned at 60 days of age
• contained secondary lysosomes containing poorly defined lamellar structures and lipofuscin like material
• 10% of neurons in neocortex were ballooned by 150 days of age and contained dense vacuoles in cytoplasm

liver/biliary system
• at 150 days of age, generally normal liver contained rare clusters of hepatocytes with abnormal expansions of the lysosomal apparatus

Mouse Models of Human Disease
OMIM ID Ref(s)
Tay-Sachs Disease; TSD 272800 J:30435

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
MGI 6.01
The Jackson Laboratory