Mouse Genome Informatics
hm
    Abca1tm1Wpfl/Abca1tm1Wpfl
involves: 129P2/OlaHsd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• reduced number of pups surviving until weaning at 3 weeks
• many pups dead by 2 days afer birth
• resorption and fetal death observed at E14

cardiovascular system
• observed in adult mice exhibiting respiratory distress

digestive/alimentary system
• increased fecal excretion of endogenously synthesized sterols

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

endocrine/exocrine glands
• reduced cholesterol levels
• absence of cholesteryl esters
• absence of free cholesterol crystals in adrenal cortex
• abnormal lipid deposition in Sertoli cells (J:64390)
• lipid depositions in medulla, particularly where medulla borders cortex

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

homeostasis/metabolism
• increased fecal excretion of endogenously synthesized sterols
• 62.8% reduction in serum levels of estrogen relative to wild-type
• 53% reduction in serum levels of progesterone relative to wild-type
• reduced by ~80% from wild-type levels (J:64390)
• markedly reduced (J:68431)
• minimal amounts detected (J:64390)
• nearly completely absent (J:68431)

immune system
• lipid depositions in medulla, particularly where medulla borders cortex
• deposition of immunoglobulin and complement components, indicative of glomerulonephritis type I
• inflammation of the uterus, accompanied by thick green-brown mucous

liver/biliary system
• depositions in large vacuoles throughout liver

muscle
• observed in adult mice exhibiting respiratory distress

renal/urinary system
• deposition of immunoglobulin and complement components, indicative of glomerulonephritis type I
• scarred glomeruli

reproductive system
• abnormal lipid deposition in Sertoli cells (J:64390)
• inflammation of the uterus, accompanied by thick green-brown mucous
• multiple resorptions, runts, dead fetuses found at E14 (J:64390)
• 55% fewer pregnancies after mating than wild-type (J:64390)

respiratory system
• 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
• lipid depositions in medulla, particularly where medulla borders cortex

Mouse Models of Human Disease
OMIM IDRef(s)
Membranoproliferative Glomerulonephritis, X-Linked 305800 J:64390
Tangier Disease; TGD 205400 J:64390