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QTL Variant Detail
QTL variant: Dsm5C57BL/6J
Name: Dravet survival modifier 5; C57BL/6J
MGI ID: MGI:5698253
QTL: Dsm5  Location: unknown  Genetic Position: Chr11, Syntenic
Strain of Specimen:  C57BL/6J
Allele Type:    QTL
Inheritance:    Not Specified

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


Linkage analysis was performed on 150 (129S6/SvEvTac-Scn1atm1Kea 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-Scn1atm1Kea allele confers increased risk of early death at the Dsm5 locus.

Original:  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
All:  1 reference(s)

Contributing Projects:
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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