Phenotypes Associated with This Genotype

Genotype
MGI:3614635

• Allelic Composition: Abca1^tm2Jp/Abca1⁺; 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 )

• moderately reduced total plasma cholesterol

• moderately reduced free cholesterol

• 50% reduction of esterified cholesterol

decreased circulating HDL cholesterol level ( J:104719 )

• moderately reduced HDL cholesterol

decreased circulating phospholipid level ( J:104719 )

• less reduction of phospolipid levels than expected

abnormal circulating protein level ( J:104719 )

• less reduction of human apoA-I in plasma than expected

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