Hdlq48^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Hdlq48^C57BL/6J
• Name: HDL QTL 48; C57BL/6J
• MGI ID: MGI:3688236
• QTL: Hdlq48 Location: unknown Genetic Position: Chr19, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased plasma HDL cholesterol compared to A/J. (J:114073)
• Inheritance: Other (see notes)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

Hdlq48 exhibits overdominance.

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

J:114073

QTL associated with plasma HDL cholesterol were mapped and compared using a (C57BL/6J x A/J)F2 intercross population and F2 intercrosses derived from C57BL/6J and chromosome substitution strains C57BL/6J-Chr 3^A/J, C57BL/6J-Chr 8^A/J, and C57BL/6J-Chr 11^A/J. A total of 578 (C57BL/6J x A/J)F2 animals were screened for microsatellite markers evenly spaced throughout the mouse genome. In F2 intercrosses involving chromosome substitution strains, males were screened for ninety-seven SNPs and females werescreened for 174 SNPs. Animals were fasted for 4 hours before blood collection and analysis.

On mouse Chromosome 1, three novel QTL named Hdlq40, Hdlq41, and Hdlq42 were identified in the (C57BL/6J x A/J)F2 intercross. Hdlq40 mapped to 2 cM with LOD=1.5and interacts with Hdlq41 at 48 cM (LOD=5). A heterozygous genotype at Hdlq40 interacts with the A/J allele at Hdlq41 to confer increased plasma HDL cholesterol. This interaction reaches statistical significance of P=0.00096. Hdlq42 mapped to 76 cM (LOD=6.4) with a confidence interval of 54 cM - 92 cM. A/J-derived alleles at Hdlq42 confer increased plasma HDL cholesterol with dominant inheritance. Hdlq42 also interacts with Hdlq44 on mouse Chromosome 8. The effect of Hdlq44 (chr8) is observed when at least 1 C57BL/6J-derived allele is present at Hdlq42. Animals homozygous for A/J-derived alleles at Hdlq44 and C57BL/6J-derived alleles at Hdlq42 exhibit significantly decreased plasma HDL cholesterol. This interaction reaches statistical significance of P=0.0035. Previously identified HDL cholesterol QTL Hdlq15 at 104 cM is located near Hdlq42.

On mouse Chromosome 3, a novel QTL named Hdlq49 was identified in the (C57BL/6J x C57BL/6J-Chr 3^A/J)F2 intercross (n=146). Hdlq49 mapped to 16 cM (LOD=4.2) with aconfidence interval spanning 10 cM - 28 cM. This locus exhibits additive inheritance with C57BL/6J-derived alleles conferring increased plasma HDL cholesterol.

In the (C57BL/6J x A/J)F2 population, Hdlq43 mapped to 52 cM on mouse Chromosome 4 (LOD=4.4)with aconfidence interval spanning 34 cM - 66 cM. This locus exhibits recessive inheritance with C57BL/6J-derived alleles conferring increased plasma HDL cholesterol.

Hdlq44 mapped to 30 cM on mouse Chromosome 8 (LOD=9.4) in the (C57BL/6J x A/J)F2 populationwith a confidence interval spanning 20 cM - 40 cM. This locus exhibits dominant inheritance with C57BL/6J-derived alleles conferring increased plasma HDL cholesterol. Hdlq44 interacts epistatically with Hdlq42, as stated above. A novel locus named Hdlq50mapped to 50 cM (LOD=10.8) in the (C57BL/6J x C57BL/6J-Chr8^A/J)F2 intercross (n=150) with a confidence interval spanning 44 cM - 54 cM. Hdlq50 exhibits dominant inheritance with C57BL/6J-derived alleles conferring increased plasma HDL cholesterol.

Onmouse Chromosome 11, a novel locus named Hdlq51 mapped to 22 cM (LOD=2.3) in the (C57BL/6J x C57BL/6J-Chr 11^A/J)F2 intercross (n=179). The Hdlq51 confidence interval spans 6 cM - 32 cM. This locus reached suggestive linkage in the (C57BL/6J x A/J)F2population. Hdlq51 exhibits dominant inheritance with C57BL/6J-derived alleles conferring increased plasma HDL cholesterol.

Hdlq45 mapped to 22 cM on mouse Chromosome 15 (LOD=2.6) in the (C57BL/6J x A/J)F2 intercross with a confidence interval spanning2 cM-30 cM. Hdlq45 exhibits additive inheritance with C57BL/6J-derived alleles conferring increased plasma HDL cholesterol.

Hldq46 mapped to 26 cM on mouse Chromosome 17 (LOD=3.4) in the (C57BL/6J x A/J)F2 intercross with a confidence interval spanning 12 cM-42 cM.Hdlq46 exhibits recessive inheritance with C57BL/6J-derived alleles conferring increased plasma HDL cholesterol.

On mouse Chromosome 18, a novel locus named Hdlq47 mapped to 26 cM with LOD=3 in the (C57BL/6J x A/J)F2 population. The Hdlq47 confidence interval spans 16 cM - 34 cM. C57BL/6J-derived alleles at Hdlq47 confer increased plasma HDL cholesterol with a recessive mode of inheritance.

On mouse Chromosome 19, Hdlq48 mapped to 4 cM (LOD=2.1) in the (C57BL/6J x A/J)F2 population with a confidence interval spanning 0 cM - 14 cM. Hdlq48 exhibits overdominant inheritance with C57BL/6J-derived alleles conferring increased plasma HDL cholesterol.

References

• Original: J:114073 Stylianou IM, et al., Complex genetic architecture revealed by analysis of high-density lipoprotein cholesterol in chromosome substitution strains and F2 crosses. Genetics. 2006 Oct;174(2):999-1007
• All: 1 reference(s)