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Variant origin |
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Variant description |
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Notes |
Mapping and Phenotype information for this QTL, its variants and associated markersJ:132290Linkage analysis was performed on 164 (12137B6 x C3H/HeJ)F2 animals and 137 (12184B6 x C3H/HeJ)F2 animals to identify QTLs associated with high bone density. 12137B6 and 12184B6 mutant lines display high bone mineral density (13%-17% higher BMD than wildtype). These lines were generated by ENU mutatgenesis on a C57BL/6J genetic background. 12137B6 and 12184B6 also display a ~24% decrease in bone resorption compared to wild type C57BL/6J. A panel of 60 microsatellite markers was used for the genome scan. A major locus for bone mineral density mapped to mouse Chromosome 4 in both crosses. This locus explains 24%-33% of the phenotypic variance and is named Hbdq1 (high bone density QTL 1). In the (12137B6 x C3H/HeJ)F2 cross, Hbdq1 exhibits dominant inheritance and the 95% confidence interval spans 46 cM - 78 cM with peak linkage at 55 cM (LOD=3.1). In the (12184B6 x C3H/HeJ)F2 cross, Hbdq1 exhibits additive inheritance and the 95% confidence interval spans 46 cM - 72 cM with peak linkage at 70 cM(LOD=7.7). Potential candidate genes for Hbdq1 include Macf1 (57.4 cM), Faf1 (52.7 cM), Fdpsl2 (63.8 cM), Clcn6 (76.4 cM), and Fgr (64.4 cM).Significant linkage to body weight mapped to 5 cM on mouse Chromosome 16 in (12137B6 x C3H/HeJ)F2 female animals (LOD=3.3).This locus is named Bwhb1(body weight in high bone density mice 1). Significant linkage to body weight mapped to 30 cM on mouse Chromosome 13 in (12184B6 x C3H/HeJ)F2 males (LOD=3.8). This locus is named Bwhb2 (body weight in high bone density mice 2). |
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References |
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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 11/19/2024 MGI 6.24 |
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