Phenotypes associated with this allele

• Allele Symbol: Npc1l1^tm1Swa
• Allele Name: targeted mutation 1, Scott W Altmann
• Allele ID: MGI:3043784
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Npc1l1^tm1Swa/Npc1l1^tm1Swa	involves: 129P2/OlaHsd * C57BL/6	MGI:3043788

Genotype
MGI:3043788

hm1

• Allelic Composition: Npc1l1^tm1Swa/Npc1l1^tm1Swa
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

homeostasis/metabolism

decreased intestinal cholesterol absorption ( J:89712 )

• homozygous mice absorbed 69% less dietary cholesterol than controls

• unlike wild-type mice dietary supplementation with cholic acid did not increase cholesterol absorption

• treatment of homozygous mice with ezetimibe did not lower absorption levels further

decreased liver cholesterol level ( J:89712 )

• reduced cholesterol ester level in the liver

• however, no significant differences are detected in liver free cholesterol or triglyceride levels or in plasma cholesterol or triglycerides levels

liver/biliary system

decreased liver cholesterol level ( J:89712 )

• reduced cholesterol ester level in the liver

• however, no significant differences are detected in liver free cholesterol or triglyceride levels or in plasma cholesterol or triglycerides levels

digestive/alimentary system

decreased intestinal cholesterol absorption ( J:89712 )

• homozygous mice absorbed 69% less dietary cholesterol than controls

• unlike wild-type mice dietary supplementation with cholic acid did not increase cholesterol absorption

• treatment of homozygous mice with ezetimibe did not lower absorption levels further