homeostasis/metabolism
N |
• mice show no changes in parameters of glucose homeostasis, with unaltered glucose and insulin tolerance, unaltered plasma cholesterol levels, and no changes in hepatic triglyceride secretion rates
|
• desmosterol secretion into bile is decreased
• 7-DHC excretion into bile is increased
|
• males show a small increase in levels of biliary bile acids
• however, phospholipid levels do not differ in bile or plasma
|
• mice exhibit an elevation of plasma levels of 7-dehydrocholesterol (DHC) and its isomer 8-DHC, and of lathosterol, and a decrease in plasma desmosterol levels
• females only show an increase in 7-dehydrodesmosterol (DHD), the immediate precursor to desmosterol
• males only show an increase in 24-dehydrolathosterol levels
• mice show altered sterol profiles in the liver, with elevated 7-DHC and 8-DHC levels
• males only show elevated levels of lathosterol and DHD in the liver
• however, no changes in levels of vitamin D3 or 25OH-vitamin D3 are seen and sterol profiles are unaltered in the brain
• the biliary sterol profile more closely mirrors the plasma sterol levels than the hepatic sterol levels
|
• females only show decreased levels of cholesterol and desmosterol in the liver
|
liver/biliary system
• females only show decreased levels of cholesterol and desmosterol in the liver
|
• the cholesterol content of bile is similar to controls, but 7-DHC and 8-DHC in bile are elevated
• bile shows decreased desmosterol, increased 7-dehydrodesmosterol and lathosterol, but no difference in lanosterol
|
growth/size/body
N |
• body weight, percent body fat and lean mass (except for males at 10-14 weeks of age) are similar to wild-type
|
• males show a slightly lower lean body mass at 10-14 weeks of age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Smith-Lemli-Opitz syndrome | DOID:14692 |
OMIM:270400 |
J:303316 |