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Phenotypes Associated with This Genotype
Genotype
MGI:2450723
Allelic
Composition
Abca1tm1Jdm/Abca1tm1Jdm
Genetic
Background
DBA/1LacJ-Abca1tm1Jdm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca1tm1Jdm mutation (1 available); any Abca1 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pulmonary lesions in Abca1tm1Jdm/Abca1tm1Jdm mice

mortality/aging
• incomplete penetrance
• at weaning, numbers of homozygotes recovered is reduced by about 50% from expected suggesting significant perinatal/postnatal lethality
• numbers of homozygous offspring recovered at weaning is significantly reduced from expected

cardiovascular system
• perivisceral

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

embryo

endocrine/exocrine glands

growth/size/body

hematopoietic system
• of apoptotic cells

homeostasis/metabolism
• 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
• more cholesterol absorbed, relative to wild-type, on both chow and Western diets
• ~70% reduction to wild-type on chow diet (J:61679)
• reduced relative to wild-type on Western-type diet (J:61679)
• 99.5% reduction relative to wild-type on chow diet (J:61679)
• undetectable on Western-type diet (J:61679)
• 70% reduction relative to wild-type on chow diet
• decreased levels of fat-soluble vitamins in plasma

immune system
• of apoptotic cells

reproductive system
• due to abnormal placental development

respiratory system
• 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 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

Mouse Models of Human Disease
OMIM ID Ref(s)
Tangier Disease; TGD 205400 J:61679


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory