Table 2.

Sexual dimorphisms in mice lacking enzymes that participate in formation of bile acids with clinical phenotypes in humans (differences between sexes not considered in these studies)

Bile Acid Synthetic Enzyme	Phenotype in knockout in terms of BAs & cholesterol	Human phenotype when gene is mutated
CYP7A1	Lithogenic composition of gallstones with increased dietary cholesterol in females [30]	Statin-resistant hypercholesterolemia [28]
	BA pool - larger in females [30]
	BA pool composition - higher CA in females [30]
	Hepatic cholesterol accumulation with increased dietary cholesterol in females (males not reported) [31]	94% reduction in fecal BA excretion [28]
	Maternal consumption of high fat diet results in male offspring with lower expression than females [33]	Premature atherosclerosis [28]
CYP8B1	BA pool increases in male more dramatically than in females [3]
	Greater compensatory response by CYP7A1 in female knockout, resulting in increased CDCA [3]
CYP27A1	Sex differences not reported [55, 59]	Cerebrotendinous xanthomatosis [55]
		Vascular and muscle cholesterol deposition [60]
ARK1D1	Higher hepatic BA concentration and lean phenotype in males [69]
CYP3A4	Sex differences not reported in genome-edited rats [75]