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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:190489In a previous study, the authors reported that heart rate (HR) was approximately 80 beats/min higher in SJL/J compared with C3HeB/FeJ mice, with no difference in systolic blood pressure (SBP). In the current study, linkage analysis was performed on a mapping population of 134 (C3HeB/FeJ x SJL/J) backcross mice to identify QTL related to HR and SBP as measured by tail-cuff plethysmography. The authors used 80 microsatellite markers to perform genetic linkage mapping analysis. They identified one QTL reaching genome-wide significance: QTL Hrq8 (Heart rate QTL 8) maps to Chromosome 7 with a peak LOD score of 6.7 at 41 cM. HR was greater in N2 progeny homozygous for the SJL/J allele compared with the C3HeB/FeJ allele at the markers D7Mit69.1 and D7Mit350.1.The authors also performed a GWAS mapping study using 322 mice from the Hybrid Mouse Diversity Panel (HMDP; 58 strains, n = 56/strain). The HMDP contains 4 million informative SNP markers and helped the authors to identify one genomic locus reaching genome-wide significance:QTL Hrq9 (Heart rate QTL 9) maps to Chromosome 7 with a peak located at 64.9 Mb (64.2 - 65.1). The peak association was observed for 17 SNPs that are localized within three GABA(A) receptor genes - Gabrb3, Gabra5, and Gabrg3 - encoding receptor subunits for the inhibitory neurotransmitter GABA(A). Although it co-localizes with the Hrq8 locus, no alleles were described for Hrq9. |
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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 12/10/2024 MGI 6.24 |
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