Phenotypes associated with this allele

• Allele Symbol: Apoa1^{tm2(APOA1)Prli}
• Allele Name: targeted mutation 2, Cinzia Parolini
• Allele ID: MGI:2451256
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Apoa1^tm2(APOA1)Prli/Apoa1^tm2(APOA1)Prli	involves: 129X1/SvJ * C57BL/6J	MGI:2451257
ht2	Apoa1^tm1(APOA1)Prli/Apoa1^tm2(APOA1)Prli	involves: 129X1/SvJ * C57BL/6J	MGI:2451259

Genotype
MGI:2451257

hm1

• 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

Genotype
MGI:2451259

ht2

• Allelic Composition: Apoa1^{tm1(APOA1)Prli}/Apoa1^{tm2(APOA1)Prli}
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

homeostasis/metabolism

decreased circulating cholesterol level ( J:81908 )

• total cholesterol is intermediate to levels seen in Apoa1^{tm2(APOA1)Prli} homozygotes and Apoa1^{tm1(APOA1)Prli} homozygotes and is lower than seen in controls

liver/biliary system

abnormal liver physiology ( J:81908 )

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