Vpantd^SWV/Fnn
QTL Variant Detail

Summary

• QTL variant: Vpantd^SWV/Fnn
• Name: VPA induced neural tube defect; SWV/Fnn
• MGI ID: MGI:3043722
• QTL: Vpantd Location: unknown Genetic Position: Chr7, cM position of peak correlated region/allele: 66.09 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: SWV/Fnn

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased incidence of VPA induced neural tube defects. (J:90097)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:90097

Linkage 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.

References

• Original: J:90097 Lundberg YW, et al., Mapping a chromosomal locus for valproic acid-induced exencephaly in mice. Mamm Genome. 2004 May;15(5):361-9
• All: 1 reference(s)