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Allele Symbol Allele Name Allele ID |
Abca1tm1Jp targeted mutation 1, John S Parks MGI:3577723 |
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| Summary |
8 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit an increase in colony-forming units in the blood
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• 1.5-fold in the spleen
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 70-90% reduction in plasma phospholipid level
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• 2-fold higher catabolism of HDL apoA-I from wildtype mice or human lipid-free ApoA-I than in wildtype, due to a 2-fold increase in the catabolism of apoA-I by the kidney, with no change in liver catabolism
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• total plasma cholesterol levels were 80% lower than in wildtype
• 70-90% reduction in plasma free cholesterol and esterified cholesterol
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• 80% lower than in wildtype
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Tangier disease | DOID:1388 |
OMIM:205400 |
J:98093 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• decreased (70-90%) phospholipid levels
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• slightly higher catabolism of HDL apoA-I from wildtype mice or human lipid-free ApoA-I than in wildtype, due to an increase in the catabolism of apoA-I by the kidney, with no change in liver catabolism
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• decreased levels of total plasma cholesterol, free cholesterol, and esterified cholesterol
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit an increase in colony-forming units in the blood
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• 1.8-fold in the spleen
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• HDL levels are reduced by 80%
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• plasma HDL levels are reduced by 90%
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• total cholesterol levels are reduced due to decreases in HDL
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• fasting plasma HDL levels are reduced about 15%
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• enterocytes have decreased efflux of cholesterol in vitro
• in vivo, uptake of cholesterol in the gut is unaffected by cholesterol fails to get transported to the circulatory system
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• cholesterol uptaken from the lumen of the gut is retained in the enterocytes instead of being transported to the blood
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• enterocytes have decreased efflux of cholesterol in vitro
• in vivo, uptake of cholesterol in the gut is unaffected by cholesterol fails to get transported to the circulatory system
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• total cholesterol levels are reduced
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• fasting plasma HDL levels are reduced about 30%
• serum levels of Apo-AI, Apo-AII and ApoB are also reduced by about 25-35%
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• serum levels of Apo-AI, Apo-AII and ApoB are also reduced by about 25-35%
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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 04/30/2024 MGI 6.23 |
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