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Variant description |
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Mapping and Phenotype information for this QTL, its variants and associated markersJ:144832Genetic loci associated with circadian rhythm phenotypes were mapped in a population of 236 (Mus musculus castaneus x C57BL/6J)F2 intercross animals. Offspring of wild caught Mus musculus castaneus displaying abnormal locomotor activity rhythms were selectively bred for the mapping cross in order to take advantage of its diverse set of polymorphisms. A panel of 107 informative markers was used to genotype F2 animals. Experimental animals were phenotyped at 50-80 days of age for locomotor activity during2weeks of 12:12 or 4:4 light/dark (LD) conditions followed by dark/dark (DD) conditions for 7 weeks. Significant linkage to circadian ratio mapped to 33.5 cM on mouse Chromosome 8 near D8Mit9 (LOD=5.26). This locus explains 10% of the phenotype varianceand is named Arrh1 (arrhythmicity 1). C57BL/6J-derived alleles at Arrh1 confer increased circadian ratio values. An overlapping QTL associated with free running period mapped to 32 cM near D8Mit7 (LOD=4.95). This locus explains 10% of the phenotypic variance and is named Sfp3 (short free-running period 3). Castaneus-derived alleles at Sfp3 confer shorter running period during the circadian cycle. A common gene may be responsible for the effects of Arrh1 and Sfp3. The 1-LOD support interval for Arrh1 and Sfp3 spans 30 cM (D8Mit205) to 37 cM (D8Mit249). Potential candidate genes located within this interval include Spc3, Wdr17, Npy1r (33 cM), Gdf1, Fcho1 and Eps15l1. An interacting locus pair was identified at mouse Chromosome3 near D3Mit3 (22 cM) and mouse Chromosome 5 near D5Mit81 (28 cM). These QTL are named Arrh2 (arrhythmicity 2) and Arrh3 (arrhythmicity 3), respectively. Homozygosity for castaneus-derived alleles at Arrh2 and Arrh3 confers decreased circadian ratio compared to heterozygosity or homozygosity for C57BL/6J alleles. A significant QTL named Sfp1 (short free-running period 1) mapped to 22.3 cM on mouse Chromosome 1 near D1Mit71 (LOD=4.71). Sfp1 explains 9% of the phenotype variance with castaneus-derived alleles conferringshorter runningperiods.Sfp2 (short free-running period 2) mapped to 32.5 cM on mouse Chromosome 6 near D6Mit188 with LOD=4. Castaneus-derived alleles at Sfp2 confer shorter running period. This locus explains 8% of the phenotypic variance for freerunning period.Sfp4(short free-running period 4) mapped to 52 cM on mouse Chromosome 11 near D11Mit179 with LOD=4.84. This locus explains 10% of the phenotype variance with castaneus-derived alleles conferring shorter running periods.A suggestive QTL forcircadian ratio mapped to 70.3 cM on mouse Chromosome 3 near D3Mit38 (LOD=2.63) and accounts for 5% of the phenotype variance. C57BL/6J-derived alleles at D3Mit38 confer increased circadian ratio. |
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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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