Phenotypes associated with this allele

• Allele Symbol: Abca1⁺
• Allele Name: wild type
• Allele ID: MGI:2432637
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Abca1^tm1b(EUCOMM)Hmgu/Abca1^+	C57BL/6N-Abca1^tm1b(EUCOMM)Hmgu/Bay	MGI:5756632
ht2	Abca1^tm1Jdm/Abca1^+	DBA/1LacJ-Abca1^tm1Jdm	MGI:2450724
ht3	Abca1^tm1Wpfl/Abca1^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:2450674
ht4	Abca1^m4620Dajl/Abca1^+	involves: C3H/HeSnJ * C57BL/6J * SWR	MGI:3848350
cn5	Abca1^tm1Jp/Abca1^+ Speer6-ps1^Tg(Alb-cre)21Mgn/Speer6-ps1^+	involves: 129S6/SvEvTac * B6.Cg-Tg(Alb-cre)21Mgn/J	MGI:3578114
cn6	Abca1^tm1Jp/Abca1^+ Tg(Vil1-cre)997Gum/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4358974
cx7	Abca1^tm2Jp/Abca1^+ Tg(APOA1)427Bres/?	involves: 129X1/SvJ * C57BL/6J * CBA/J	MGI:3614635

Genotype
MGI:5756632

ht1

• Allelic Composition: Abca1^{tm1b(EUCOMM)Hmgu}/Abca1⁺
• Genetic Background: C57BL/6N-Abca1^{tm1b(EUCOMM)Hmgu}/Bay
• Cell Lines: HEPD0720_5_A09

Data Sources

IMPC Data for Abca1

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

behavior/neurological

unresponsive to tactile stimuli ( J:211773 )

IMPC - BCM

vision/eye

abnormal retina morphology ( J:211773 )

♀

IMPC - BCM

Genotype
MGI:2450724

ht2

• Allelic Composition: Abca1^tm1Jdm/Abca1⁺
• Genetic Background: DBA/1LacJ-Abca1^tm1Jdm

homeostasis/metabolism

abnormal lipid homeostasis ( J:61679 )

• low apolipoprotein A-I level, reduced relative to wild-type on chow and Western-type diets

• low apolipoprotein B level, 20% reduction on chow diet

decreased circulating cholesterol level ( J:61679 )

decreased circulating HDL cholesterol level ( J:61679 )

• reduced relative to wild-type on chow and Western-type diets

decreased circulating LDL cholesterol level ( J:61679 )

• 20% reduction on chow diet

abnormal circulating phospholipid level ( J:61679 )

respiratory system

abnormal lung morphology ( J:61679 )

• microscopic, but not macroscopic, pale foci observed

• foci consisted of type II pneumocytes, lipid-laden macrophages, and cholesterol clefts

Genotype
MGI:2450674

ht3

• Allelic Composition: Abca1^tm1Wpfl/Abca1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

cardiovascular system

heart left ventricle hypertrophy ( J:64390 )

heart right ventricle hypertrophy ( J:64390 )

lung hemorrhage ( J:64390 )

cardiomyopathy ( J:64390 )

• observed in adult mice exhibiting respiratory distress

embryo

abnormal placenta labyrinth morphology ( J:64390 )

• architectural abnormalities milder than those exhibited in homozygous mutant mice

homeostasis/metabolism

decreased circulating cholesterol level ( J:64390 )

• reduced by ~40% from wild-type levels

decreased circulating HDL cholesterol level ( J:64390 )

• approximately half of wild-type

muscle

heart left ventricle hypertrophy ( J:64390 )

heart right ventricle hypertrophy ( J:64390 )

cardiomyopathy ( J:64390 )

• observed in adult mice exhibiting respiratory distress

reproductive system

reduced female fertility ( J:64390 )

♀

respiratory system

lung hemorrhage ( J:64390 )

respiratory distress ( J:64390 )

• female exhibited at 1 year of age

growth/size/body

heart left ventricle hypertrophy ( J:64390 )

heart right ventricle hypertrophy ( J:64390 )

Genotype
MGI:3848350

ht4

• Allelic Composition: Abca1^m4620Dajl/Abca1⁺
• Genetic Background: involves: C3H/HeSnJ * C57BL/6J * SWR

homeostasis/metabolism

decreased circulating cholesterol level ( J:149088 )

• intermediate between homozygous mice and wild-type mice

decreased circulating HDL cholesterol level ( J:149088 )

• intermediate between homozygous mice and wild-type mice

Genotype
MGI:3578114

cn5

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

homeostasis/metabolism

abnormal circulating phospholipid level ( J:98093 )

• decreased (70-90%) phospholipid levels

abnormal cholesterol homeostasis ( J:98093 )

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

decreased circulating cholesterol level ( J:98093 )

• decreased levels of total plasma cholesterol, free cholesterol, and esterified cholesterol

decreased circulating HDL cholesterol level ( J:98093 )

Genotype
MGI:4358974

cn6

• Allelic Composition: Abca1^tm1Jp/Abca1⁺; Tg(Vil1-cre)997Gum/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

homeostasis/metabolism

decreased circulating cholesterol level ( J:107802 )

• total cholesterol levels are reduced due to decreases in HDL

decreased circulating HDL cholesterol level ( J:107802 )

• fasting plasma HDL levels are reduced about 15%

Genotype
MGI:3614635

cx7

• 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