Phenotypes Associated with This Genotype

Genotype
MGI:3614634

• Allelic Composition: Abca1^tm2Jp/Abca1^tm2Jp; Tg(APOA1)427Bres/?
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

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

homeostasis/metabolism

abnormal circulating cholesterol level ( J:104719 )

• significantly reduced total plasma cholesterol

• significantly reduced free cholesterol

• significantly reduced levels of esterified cholesterol

decreased circulating HDL cholesterol level ( J:104719 )

• significantly reduced HDL cholesterol

• lower than in absence of transgene

• faster plasma HDL catabolism

decreased circulating phospholipid level ( J:104719 )

• significantly reduced phospolipid levels

abnormal circulating protein level ( J:104719 )

• human apoA-I not detectable in plasma

renal/urinary system

abnormal kidney physiology ( J:104719 )

• two fold increase in HDL catabolism in the kidney

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Tangier disease		DOID:1388	OMIM:205400	J:104719