Mapping Data

Experiment

• Experiment
  TEXT-QTL
• Chromosome
  11
• Reference
  J:203040 Miller AR, et al., Mapping genetic modifiers of survival in a mouse model of Dravet syndrome. Genes Brain Behav. 2014 Feb;13(2):163-72
• ID
  MGI:5698249

Genes

Gene	Assay Type
Dsm5	visible phenotype

Notes

• Experiment
  Linkage analysis was performed on 150 (129S6/SvEvTac-Scn1a^tm1Kea x C57BL/6J)F1 x C57BL/6J backcross mice to identify QTL associated with premature lethality in a Dravet syndrome model (Scn1a^+/- mice). Phenotype severity in Scn1a^+/- mice is strongly dependent on strain background; Scn1a^+/- mice exhibit no overt phenotype on the 129S6/SvEvTac background but exhibit spontaneous seizures and early lethality when bred onto a (C57BL/6J x 129S6/SvEvTac)F1 background.
  
  For QTL mapping analysis of this backcross the authors used a selective genotyping strategy with single-marker X^2 analysis to identify chronosomes with suggestive evidence of linkage. Under the binary phenotypic trait model, mice were categorized as 'early lethals' (<12-week survival) or 'survivors' (>=12-week survival). The authors found suggestive or significant evidence for linkage on chromosomes 5 and 11.
  
  QTL Dsm4 maps to Chromosome 5 (5.6 - 51.6 cM) with a peak LOD score at 12.9 cM in linkage with premature lethality. The C57BL/6J allele confers increased risk of early death at the Dsm4 locus.
  
  QTL Dsm5 maps to Chromosome 11 (4.7 - 39.7 cM) with a peak LOD score at 2.25 cM in linkage with premature lethality. The 129S6/SvEvTac-Scn1a^tm1Kea allele confers increased risk of early death at the Dsm5 locus.