Mouse Genome Informatics
hm
    Hexatm1Cota/Hexatm1Cota
involves: 129S2/SvPas * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Tay-Sachs Disease; TSD 272800 J:30435