Summary |
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Variant origin |
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Variant description |
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Phenotypes |
View phenotypes and curated references for all genotypes (concatenated display).
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Notes |
Mapping and Phenotype information for this QTL, its variants and associated markersJ:117027Linkage analysis was performed on a (C57BL/6J-Sox10Dom x C3HeB/FeJ)F2 intercross previously used by Owens et al, 2005, to find modifiers of Sox10Dom. A total of 1068 F2 animals homozygous for Sox10Dom were analyzed for gut length. 117 autosomal markers and 6 markers on the X chromosome were screened. Genetic markers on chromosome 15 were excluded due to proximity to the Sox10 mutation. This mutation results in neural crest defects similar to those found in Hirschsprung disease in humans. Strong linkage to gut length was detected at 22 cM on mouse Chromosome 5 (LOD=6.31). This locus is Agln1 (aganglionosis modifier 1) identified by Owens et al, 2005. C3HeB/FeJ-derived alleles at Agln1 confer increased gut length with dominant inheritance. Linkage to gut length in females mapped to 48 cM on mouse Chromosome 18 (LOD=3.54). This locus is designated Gutl1 (gut length 1). C3HeB/FeJ-derived alleles at Gutl1 confer increased gut length in females with recessive inheritance. Suggestive linkage to gut length mapped to 57 cM on mouse Chromosome X (LOD=3.33). Special treatment of the X chromosome was utilized in this analysis to account for sex chromosome segregation behavior. This locus would reach statistical significance if the X chromosome had been analyzed the same way as an autosome. |
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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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