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Allele Symbol Allele Name Allele ID |
Abca1tm1Wpfl targeted mutation 1, Wai-Ping Fung-Leung MGI:1935193 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• lipid (cholesteryl esters) accumulation in sertoli cells
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• lipid (cholesteryl esters) accumulation in sertoli cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• resorption and fetal death observed at E14
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• reduced number of pups surviving until weaning at 3 weeks
• many pups dead by 2 days afer birth
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• observed in adult mice exhibiting respiratory distress
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• increased fecal excretion of endogenously synthesized sterols
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• disrupted architecture with hemorrhages, cell debris, and inclusions of spongiotrophoblast
• distorted symmetry
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• reduced cholesterol levels
• absence of cholesteryl esters
• absence of free cholesterol crystals in adrenal cortex
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• lipid depositions in medulla, particularly where medulla borders cortex
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• abnormal lipid deposition in Sertoli cells
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• those that survived, were runted by 2.5 weeks after birth
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• increased fecal excretion of endogenously synthesized sterols
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• 62.8% reduction in serum levels of estrogen relative to wild-type
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• 53% reduction in serum levels of progesterone relative to wild-type
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• reduced by ~80% from wild-type levels
(J:64390)
• markedly reduced
(J:68431)
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• minimal amounts detected
(J:64390)
• nearly completely absent
(J:68431)
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• lipid depositions in medulla, particularly where medulla borders cortex
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• deposition of immunoglobulin and complement components, indicative of glomerulonephritis type I
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• inflammation of the uterus, accompanied by thick green-brown mucous
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• heavy lipid depositions in large vacuoles throughout liver
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• observed in adult mice exhibiting respiratory distress
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• deposition of immunoglobulin and complement components, indicative of glomerulonephritis type I
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• scarred glomeruli
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• deposition of immunoglobulin and complement components
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• abnormal lipid deposition in Sertoli cells
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• inflammation of the uterus, accompanied by thick green-brown mucous
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• multiple resorptions, runts, dead fetuses found at E14
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• 55% fewer pregnancies after mating than wild-type
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• necropsy of wasted pups showed bronchopulmonary dysplasia, indicative of respiratory distress
• mice that survived past weaning exhibited respiratory distress at 4 to 6 months
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• lipid depositions in medulla, particularly where medulla borders cortex
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Tangier disease | DOID:1388 |
OMIM:205400 |
J:64390 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• observed in adult mice exhibiting respiratory distress
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• architectural abnormalities milder than those exhibited in homozygous mutant mice
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• reduced by ~40% from wild-type levels
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• approximately half of wild-type
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• observed in adult mice exhibiting respiratory distress
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• female exhibited at 1 year of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die between 80 and 100 days of age from neurodegenerative disease
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• mice have decreased levels of total cholesterol in the brain
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• mice have increased cholesterol levels in the liver, spleen, intestine and lung though not to extent observed in Npc1 mutants on a wild-type background
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• mice have decreased levels of total cholesterol in the brain
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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