Hdlq52^129S1/SvImJ
QTL Variant Detail

Summary

• QTL variant: Hdlq52^129S1/SvImJ
• Name: HDL QTL 52; 129S1/SvImJ
• MGI ID: MGI:3839830
• QTL: Hdlq52 Location: unknown Genetic Position: Chr5, Syntenic

Variant origin

• Strain of Specimen: 129S1/SvImJ

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased plasma HDL concentration on an atherogenic diet compared to C57BL/6J. (J:144089)
• Inheritance: Not Specified

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

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

J:144089

Linkage analysis was performed on 528 animals from a (C57BL/6J x 129S1/SvImJ)F2 intercross to map QTL associated with plasma HDL levels on either a CHOW or atherogenic diet. F2 animals were fed a CHOW diet until 8 weeks of age and then placed on an atherogenic diet until 16 weeks of age. An array of 508 SNPs was used for genome scan. Plasma HDL is significantly higher in 129S1/SvImJ parental strain compared to C57BL/7J on CHOW and high fat diets, with a stronger effect observed in males compared to females. Several previously identified HDL QTL were detected in this study as well as several novel loci, some of which showed interactive effects.

Mouse Chromosome 5 showed evidence for multiple QTL. Hdlq1 (HDL QTL 1) is a previously identified QTL. In this study Hdlq1 mapped to 91.4 Mb (45 cM) near rs134778390 and is linked to increased plasma HDL on CHOW diet (LOD=3.3). The Hdlq1 95% confidence interval spans 79 Mb (44 cM) - 127 Mb (70 cM). 129S1/SvImJ-derived alleles at Hdlq1 confer increased plasma HDL on CHOW diet. Hdlq1 also interacts with Hdlq16 on chromosome 8. Homozygosity for 129S1/SvImJ-derived allele at both Hdlq1 and Hdlq16 significantly decreased plasma HDL concentration in male and female animals fed a CHOW diet. A novel QTL named Hdlq52 (HDL QTL 52) was identified at 23.4 Mb (8 cM) near rs13478142. This locus is associated with increased plasma HDL on an atherogenic diet (LOD=3.6) and the 95% confidence interval spans 7 Mb (1 cM) to 33 Mb (18 cM). 129S1/SvImJ-derived alleles at Hdlq52 confer increased plasma HDL on an atherogenic diet.

References

• Original: J:144089 Su Z, et al., Genetic basis of HDL variation in 129/SvImJ and C57BL/6J mice: importance of testing candidate genes in targeted mutant mice. J Lipid Res. 2009 Jan;50(1):116-25
• All: 1 reference(s)