| Type | MGI:General | Description | at E18.5, mutant embryos exhibit significantly increased tissue and serum levels of lathosterol relative to wild-type or heterozygous embryos in mutant tissues lathosterol accounts for 39% (serum), 48% (cortex), 53% (midbrain), 62% (liver), 52% (kidney) or 55% (skeletal muscle) of total sterols, whereas in wild-type tissues lathosterol accounts for 0.1-1.1% of total sterols, with the highest fractions in cortex (0.9%) and midbrain (1.1%) in mutant liver tissue the fraction of lathosterol increases from 32% at E12.5 to 61% at E18.5 with a corresponding reduction in cholesterol levels in mutant brain tissue increased lathosterol and significantly decreased cholesterol levels are noted from E12.5 to E18.5 in E18.5 mutant cortex tissue desmosterol levels are significantly decreased, along with a 35-fold increase in cholesta-7,24-diene-3beta-ol and a 63-fold accumulation of lathosterol |
