Phenotypes Associated with This Genotype

Genotype
MGI:3578113

• Allelic Composition: Abca1^tm1Jp/Abca1^tm1Jp; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: involves: 129S6/SvEvTac * B6.Cg-Tg(Alb-cre)21Mgn/J

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

homeostasis/metabolism

abnormal circulating phospholipid level ( J:98093 )

• 70-90% reduction in plasma phospholipid level

increased circulating triglyceride level ( J:98093 )

abnormal cholesterol homeostasis ( J:98093 )

• 2-fold higher catabolism of HDL apoA-I from wildtype mice or human lipid-free ApoA-I than in wildtype, due to a 2-fold increase in the catabolism of apoA-I by the kidney, with no change in liver catabolism

decreased circulating cholesterol level ( J:98093 )

• total plasma cholesterol levels were 80% lower than in wildtype

• 70-90% reduction in plasma free cholesterol and esterified cholesterol

decreased circulating HDL cholesterol level ( J:98093 )

• 80% lower than in wildtype

decreased circulating LDL cholesterol level ( J:98093 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Tangier disease		DOID:1388	OMIM:205400	J:98093