Phenotypes associated with this allele

• Allele Symbol: Cyp8b1^tm1Rus
• Allele Name: targeted mutation 1, David Russell
• Allele ID: MGI:3588415
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cyp8b1^tm1Rus/Cyp8b1^tm1Rus	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3589590

Genotype
MGI:3589590

hm1

• Allelic Composition: Cyp8b1^tm1Rus/Cyp8b1^tm1Rus
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

liver/biliary system

abnormal bile secretion ( J:100206 )

• increased bile acid excretion indicates that liver bile acid synthesis is increased

abnormal liver physiology ( J:100246 , J:100206 )

• when fed a cholic acid supplemented diet liver cholesterol levels do not increase as much as in wild-type mice on the same diet (J:100246)

• liver cholesterol synthesis is significantly increased; however total liver and circulating cholesterol levels are similar to wild-type (J:100206)

homeostasis/metabolism

abnormal lipid homeostasis ( J:100206 )

• homozygotes excrete more neutral sterols

steatorrhea ( J:100206 )

decreased intestinal cholesterol absorption ( J:100206 )

• cholesterol absorption is decreased and no difference is seen between homozygous males and females unlike in wild-type mice; however circulating cholesterol levels are similar to wild-type

decreased circulating cholesterol level ( J:100246 )

• when fed a cholic acid supplemented diet plasma cholesterol levels decrease in a dose dependent manner unlike wild-type mice which do not have any decrease in plasma cholesterol levels

abnormal bile salt homeostasis ( J:100246 , J:100206 )

• supplementing the diet with cholate or chenodeoxycholate decreases bile acid synthesis similar to the response in wild-type (J:100206)

• the bile acid pool size is increased by 37% and 20% in males and females, respectively, compared to wild-type (J:100206)

abnormal bile salt level ( J:100206 )

• homozygotes lack cholate and its secondary metabolites in bile

digestive/alimentary system

steatorrhea ( J:100206 )

decreased intestinal cholesterol absorption ( J:100206 )

• cholesterol absorption is decreased and no difference is seen between homozygous males and females unlike in wild-type mice; however circulating cholesterol levels are similar to wild-type