Phenotypes Associated with This Genotype

Genotype
MGI:2450723

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

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

Pulmonary lesions in Abca1^tm1Jdm/Abca1^tm1Jdm mice

mortality/aging

perinatal lethality, incomplete penetrance ( J:61679 )

• incomplete penetrance

• at weaning, numbers of homozygotes recovered is reduced by about 50% from expected suggesting significant perinatal/postnatal lethality

postnatal lethality, incomplete penetrance ( J:63265 )

• numbers of homozygous offspring recovered at weaning is significantly reduced from expected

cardiovascular system

hemorrhage ( J:63265 )

• perivisceral

digestive/alimentary system

increased intestinal cholesterol absorption ( J:61679 )

• more cholesterol absorbed, relative to wild-type, on both chow and Western diets

embryo

abnormal placenta development ( J:63265 )

endocrine/exocrine glands

enlarged adrenal glands ( J:60210 )

growth/size/body

decreased body weight ( J:60210 )

enlarged spleen ( J:60210 )

hematopoietic system

impaired macrophage phagocytosis ( J:63265 )

• of apoptotic cells

enlarged spleen ( J:60210 )

thrombocytopenia ( J:60210 )

homeostasis/metabolism

abnormal lipid homeostasis ( J:61679 )

• low apolipoprotein A-I level, 99.8% reduction relative to wild-type on chow diet and undetectable on Western-type diet

• low apolipoprotein B level, 70% reduction relative to wild-type on chow diet

increased intestinal cholesterol absorption ( J:61679 )

• more cholesterol absorbed, relative to wild-type, on both chow and Western diets

decreased circulating cholesterol level ( J:60210 , J:61679 )

• ~70% reduction to wild-type on chow diet (J:61679)

• reduced relative to wild-type on Western-type diet (J:61679)

decreased circulating HDL cholesterol level ( J:60210 , J:61679 )

• 99.5% reduction relative to wild-type on chow diet (J:61679)

• undetectable on Western-type diet (J:61679)

decreased circulating LDL cholesterol level ( J:61679 )

• 70% reduction relative to wild-type on chow diet

abnormal circulating phospholipid level ( J:61679 )

abnormal fat-soluble vitamin level ( J:60210 )

• decreased levels of fat-soluble vitamins in plasma

immune system

impaired macrophage phagocytosis ( J:63265 )

• of apoptotic cells

enlarged spleen ( J:60210 )

reproductive system

female infertility ( J:63265 )

♀ • due to abnormal placental development

respiratory system

abnormal lung morphology ( J:61679 )

• macroscopic and microscopic pale foci in 5-10% of parenchyma in mice 7 months or older, increasingly prevalent with age

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

abnormal pulmonary alveolus morphology ( J:61679 )

• abnormal architecture; alveolar septae are focally expanded by mild type II pneumocyte hypertrophy, macrophages, and aggregates of lymphocytes and plasma cells

• lipid accumulation within alveolar cells

cellular

impaired macrophage phagocytosis ( J:63265 )

• of apoptotic cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Tangier disease		DOID:1388	OMIM:205400	J:61679