Phenotypes Associated with This Genotype

Genotype
MGI:2450673

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

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:64390 )

• resorption and fetal death observed at E14

postnatal lethality, incomplete penetrance ( J:64390 )

• reduced number of pups surviving until weaning at 3 weeks

• many pups dead by 2 days afer birth

cardiovascular system

heart left ventricle hypertrophy ( J:64390 )

heart right ventricle hypertrophy ( J:64390 )

lung hemorrhage ( J:64390 )

placenta hemorrhage ( J:64390 )

cardiomyopathy ( J:64390 )

• observed in adult mice exhibiting respiratory distress

digestive/alimentary system

decreased intestinal cholesterol absorption ( J:68431 )

• increased fecal excretion of endogenously synthesized sterols

embryo

placenta hemorrhage ( J:64390 )

embryonic growth arrest ( J:64390 )

embryonic growth retardation ( J:64390 )

abnormal placenta labyrinth morphology ( J:64390 )

• disrupted architecture with hemorrhages, cell debris, and inclusions of spongiotrophoblast

• distorted symmetry

endocrine/exocrine glands

abnormal adrenal gland morphology ( J:64390 )

• reduced cholesterol levels

• absence of cholesteryl esters

• absence of free cholesterol crystals in adrenal cortex

abnormal thymus morphology ( J:64390 )

• lipid depositions in medulla, particularly where medulla borders cortex

abnormal ovary morphology ( J:64390 )

♀

abnormal Sertoli cell morphology ( J:64390 )

♂ • abnormal lipid deposition in Sertoli cells

growth/size/body

heart left ventricle hypertrophy ( J:64390 )

heart right ventricle hypertrophy ( J:64390 )

embryonic growth retardation ( J:64390 )

decreased body size ( J:64390 )

• those that survived, were runted by 2.5 weeks after birth

homeostasis/metabolism

decreased intestinal cholesterol absorption ( J:68431 )

• increased fecal excretion of endogenously synthesized sterols

decreased circulating estradiol level ( J:64390 )

• 62.8% reduction in serum levels of estrogen relative to wild-type

decreased circulating progesterone level ( J:64390 )

• 53% reduction in serum levels of progesterone relative to wild-type

decreased circulating cholesterol level ( J:64390 , J:68431 )

• reduced by ~80% from wild-type levels (J:64390)

• markedly reduced (J:68431)

decreased circulating HDL cholesterol level ( J:64390 , J:68431 )

• minimal amounts detected (J:64390)

• nearly completely absent (J:68431)

immune system

abnormal thymus morphology ( J:64390 )

• lipid depositions in medulla, particularly where medulla borders cortex

glomerulonephritis ( J:64390 )

• deposition of immunoglobulin and complement components, indicative of glomerulonephritis type I

uterus inflammation ( J:64390 )

• inflammation of the uterus, accompanied by thick green-brown mucous

liver/biliary system

macrovesicular hepatic steatosis ( J:64390 )

• heavy lipid depositions in large vacuoles throughout liver

muscle

heart left ventricle hypertrophy ( J:64390 )

heart right ventricle hypertrophy ( J:64390 )

cardiomyopathy ( J:64390 )

• observed in adult mice exhibiting respiratory distress

renal/urinary system

abnormal kidney cortex morphology ( J:64390 )

glomerulonephritis ( J:64390 )

• deposition of immunoglobulin and complement components, indicative of glomerulonephritis type I

glomerulosclerosis ( J:64390 )

• scarred glomeruli

renal glomerular immunoglobulin deposits ( J:64390 )

• deposition of immunoglobulin and complement components

reproductive system

abnormal ovary morphology ( J:64390 )

♀

abnormal Sertoli cell morphology ( J:64390 )

♂ • abnormal lipid deposition in Sertoli cells

uterus inflammation ( J:64390 )

• inflammation of the uterus, accompanied by thick green-brown mucous

abnormal uterus morphology ( J:64390 )

♀ • multiple resorptions, runts, dead fetuses found at E14

reduced female fertility ( J:64390 )

♀ • 55% fewer pregnancies after mating than wild-type

respiratory system

lung hemorrhage ( J:64390 )

respiratory distress ( J:64390 )

• necropsy of wasted pups showed bronchopulmonary dysplasia, indicative of respiratory distress

• mice that survived past weaning exhibited respiratory distress at 4 to 6 months

hematopoietic system

abnormal thymus morphology ( J:64390 )

• lipid depositions in medulla, particularly where medulla borders cortex

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Tangier disease		DOID:1388	OMIM:205400	J:64390