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early conceptus |
embryo ectoderm |
embryo endoderm |
embryo mesoderm |
embryo mesenchyme |
extraembryonic component |
alimentary system |
auditory system |
branchial arches |
cardiovascular system |
connective tissue |
endocrine system |
exocrine system |
hemolymphoid system |
integumental system |
limbs |
liver and biliary system |
musculoskeletal system |
nervous system |
olfactory system |
reproductive system |
respiratory system |
urinary system |
visual system |
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| QTL | Genetic Location* | Genome Location (GRCm39) | Reference | QTL Note |
| Lith1 | Chr2, 47.93 cM | Chr2:45347635-145312647 | J:88544 | Abcb11, a candidate gene for Lith1 on mouse Chromosome 2, was examined in this study. Sequencing of Abcb11 failed to detect polymorphisms in the gene coding region between gallstone susceptible strain C57L/J and gallstone resistant strain AKR/J. Northernand Western blot analysis detected 3-fold increased mRNA and protein expression in C57L/J compared to AKR/J. However, Abcb11 transport function was decreased 9-fold in C57L/J compared to AKR/J. In addition, Abcb11-null mice display lithogenic bile. These results support the candidacy of Abcb11 as a candidate gene for Lith1. |
| Lith1 | Chr2, 47.93 cM | Chr2:45347635-145312647 | J:104062 | Lith1 is a previously identified gallstone susceptibility QTL mapping to 41 cM on mouse Chromosome 2. Abcb11 at 38.4 cM colocalizes with Lith1 and is overexpressed in the gallstone-susceptible inbred strain C57/L compared to the gallstone-resistant inbred strain AKR/J. Authors evaluated animals carrying the Tg(RP23-291P1)1Flp transgene on an FVB/NJ genetic background to determine if Abcb11 overexpression accelerates gallstone formation. Male transgenic and FVB/NJ control animals were fed a lithogenic diet for up to 7 days. On the CHOW diet, Tg(RP23-291P1)1Flp transgenic animals and FVB/NJ controls did not develop cholesterol crsytals or gallstones. However, gallbladder bile from transgenic animals was significantly more hydrophobic compared to FVB/NJwild type controls. On day 4 of the lithogenic diet, 100% of transgenic animals exhibited bile cholesterol crystals and 25% had gallstones compared to 43% and 0%, respectively, of FVB/NJ controls. On day 7 of the lithogenic diet, 80% of transgenic animals had gallstones compared to 41% of FVB/NJ controls. These results support the hypothesis that overexpression of Abcb11 is responsible for the gallstone-susceptible effect of Lith1. |
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 10/29/2024 MGI 6.24 |
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