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QTL Variant Detail
QTL variant: Pairq1C3H/HeOuJ
Name: P. aeruginosa infection resistance QTL 1; C3H/HeOuJ
MGI ID: MGI:6316073
QTL: Pairq1  Location: Chr6:81476981-102176961 bp  Genetic Position: Chr6, Syntenic
Strain of Specimen:  C3H/HeOuJ
Allele Type:    QTL
Inheritance:    Not Specified

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


P. aeruginosa is one of the top three causes of opportunistic human bacterial infections. The remarkable variability in the clinical outcomes of this infection is thought to be associated with genetic predisposition. As a step towards mapping the genes underlying P. aeruginosa susceptibility, the authors applied a genome wide linkage analysis approach to identify QTL in a large F2 intercross population, obtained by mating P. aeruginosa-resistant C3H/HeOuJ mice with susceptible A/J mice.

A/J (n = 22), C3H/HeOuJ (n = 26), and (A/J x C3H/HeOuJ) F2 mice (n = 400) were challenged with a P. aeruginosa clinical strain and monitored for the survival time up to 7 days post-infection, as a disease phenotype associated trait. Selected phenotypic extremes of the F2 distribution were genotyped with MegaMUGA mouse array,

which consists 77,000 SNP markers based on the Illumina Infinium platform. Haley-Knott regression was used to map QTL contributing to survival.

One significant locus was identified:

QTL Pairq1 (P. aeruginosa infection resistance QTL 1) maps to Chr 6:81.5 - 102.2 Mbp with a peak LOD score of 4.3 at 90.8 Mbp. The A/J homozygotes survived longer than the C3H/HeOuJ homozygotes, opposite of what would be expected from the parental strains phenotypes.

The most promising candidate genes, including Dok1, Tacr1, Cd207, Clec4f, Gp9, Gata2, and Foxp1, are related to pathogen sensing, neutrophil and macrophage recruitment, and inflammatory processes.

Original:  J:244293 De Simone M, et al., Mapping genetic determinants of host susceptibility to Pseudomonas aeruginosa lung infection in mice. BMC Genomics. 2016 May 11;17:351
All:  1 reference(s)

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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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