Hsl1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Hsl1^C57BL/6J
• Name: hyperoxia susceptibility locus 1; C57BL/6J
• MGI ID: MGI:2389121
• QTL: Hsl1 Location: Chr2:80570154-80570301 bp Genetic Position: Chr2, cM position of peak correlated region/allele: 48.5 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers susceptibility to hyperoxia compared to C3H/HeJ. (J:73581)

Notes

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

J:73581

Linkage analysis was performed on (C57BL/6J x C3H/HeJ)F2 intercross animals and BXH RI strains to identify QTLs associated with susceptibility to hyperoxia. Parental strain C57BL/6J is susceptible to hyperoxia whereas C3H/HeJ is resistant. A locus named Hsl1, hyperoxia susceptibility locus 1, mapped to 48 cM on mouse Chromosome 2 in linkage to polymorphonuclear leukocyte (PMN) infiltration with LRS=13.2 at D2Mit248. Hsl1 is also linked to hyperoxia-induced changes in endothelial cell and macrophage levels. The QTL range of Hsl1 spans 45 cM - 49.2 cM on chromosome 2. C57BL/6J-derived alleles confer susceptibility to hyperoxia at this locus. A strong candidate gene for Hsl1 is Nfe2l2. Basal mRNA level of Nfe2l2 is 1.8-fold higher in C3H/HeJ animals compared to C57BL/6J, and the difference increases following hyperoxic lung injury. Sequence analysis detected a T to C substitution in the Nfe2l2 promoter region (position -336) in C57BL/6J, and the polymorphism was shown to segregate with the phenotype. A suggestive QTL, Hsl2, mapped from 51.1 cM - 58.5 cM on mouse Chromosome 3.

References

• Original: J:73581 Cho HY, et al., Linkage Analysis of Susceptibility to Hyperoxia. Nrf2 is a candidate gene. Am J Respir Cell Mol Biol. 2002 Jan 1;26(1):42-51
• All: 2 reference(s)