Summary |
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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:90097Linkage analysis was performed on 131 (SWV/Fnn x C57BL/6J)F1 x SWV/Fnn backcross fetuses to identify QTLs associated with valproic acid (VPA) induced neural tube defect. Pregnant females were administered VPA at gestational day E8.5 via intraperitoneal injection and fetuses were examined at E15.5-E17.5 via caesarean section. Parental strain SWV/Fnn exhibits high susceptibility to VPA-induced neural tube defect (at a rate of 81.3% exencephaly) whereas parental strain C57BL/6J appears resistant (9.9% exencephaly). 87 polymorphic markers at average intervals of 10 cM-20 cM were screened. Significant linkage mapped to 44.8 cM on mouse Chromosome 7 near D7Mit285 (p<2x10-6) and is named Vpantd (VPA-induced neural tube defect). This locus spans approximately 6cM and is syntenic to human Chromosome 16p11.2. Candidate genes found within this region include Tbx6, Prkcb, Itgal, Itgam, Mapk3, Plk1, and Ern2. Haplotype analysis mapped the Vpantd critical region between D7Mit285 and D7Mit101. The SWR/Fnn-derived allele appears to be associated with VPA-induced exencephaly. |
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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 11/05/2024 MGI 6.24 |
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