Phenotypes Associated with This Genotype

Genotype
MGI:2451257

• Allelic Composition: Apoa1^{tm2(APOA1)Prli}/Apoa1^{tm2(APOA1)Prli}
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:81908 )

• significant increase in plasma unesterified to esterified cholesterol ratio compared to Apoa1^{tm1(APOA1)Prli} homozygotes, suggesting impaired cholesterol esterification

decreased circulating cholesterol level ( J:81908 )

• total cholesterol is lower

decreased circulating HDL cholesterol level ( J:81908 )

• plasma HDL cholesterol is 63% and 50% lower than in Apoa1^{tm1(APOA1)Prli} homozygotes or Apoa1^{tm1(APOA1)Prli}/Apoa1^{tm2(APOA1)Prli} heterozygotes, respectively

liver/biliary system

abnormal liver physiology ( J:81908 )

• secretion of the human APOA1 into the medium is reduced in cultured hepatic cells