Phenotypes associated with this allele

• Allele Symbol: Abca1^tm2Jp
• Allele Name: targeted mutation 2, John S Parks
• Allele ID: MGI:3613250
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Abca1^tm2Jp/Abca1^tm2Jp Tg(APOA1)427Bres/?	involves: 129X1/SvJ * C57BL/6J * CBA/J	MGI:3614634
cx2	Abca1^tm2Jp/Abca1^+ Tg(APOA1)427Bres/?	involves: 129X1/SvJ * C57BL/6J * CBA/J	MGI:3614635

Genotype
MGI:3614634

cx1

• 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

Genotype
MGI:3614635

cx2

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

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