Hrvhf1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Hrvhf1^C57BL/6J
• Name: heart rate variability, high frequency 1; C57BL/6J
• MGI ID: MGI:3814848
• QTL: Hrvhf1 Location: Chr5:53433423-53433423 bp Genetic Position: Chr5, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased high frequency heart rate variability compared to A/J. (J:138212)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

Hrvfh1 was identified in males.

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

J:138212

Genetic loci associated with heart rate and heart rate variability were mapped using 29 AXB/BXA (A=A/J; B=C57BL/6J) recombinant inbred (RI) strains. Over 8500 informative markers and 2400 unique strain distribution patterns were used for linkage analysis. Male animals were used for this study. Heart rate was measured by echocardiography for a duration of 20 minutes. Parental strains A/J and C57BL/6J do not exhibit significant difference in heart rates; however a wide range of variation in heart rate was observed in the RI strains.

Significant linkage to heart rate mapped to mouse Chromosome 6 between 52 Mb and 56 Mb with LOD=3.763 at rs3653600 (53.69 Mb). This locus is named Hrtr1 (heart rate 1). A/J-derived alleles at Hrtr1 confer increased heart rate.Crhr2 (28 cM; 55 Mb) and Npy (26 cM; 49.77 Mb) are potential candidate genes for Hrtr1.

Suggestive linkage to total power heart rate variability mapped to 48 Mb on mouse Chromosome 2 near rs13476480 (LOD=2.188), 51.8 Mb on mouse Chromosome 4 near rs3676423 (LOD=2.188), 32.22 Mb on mouse Chromosome 5 near rs3682333 (LOD=3), 111.9 Mb on mouse Chromosome 6 near rs13478972 (LOD=2.188), and 96 Mb on mouse Chromosome 14 near rs13482372 (LOD=2.438).

Significant linkage to heart rate frequency variability mapped to mouse Chromosome 5 between 46 Mb and 56 Mb with LOD=3.107 at rs6263715 (53.56 Mb). This locus is named Hrvhf1 (heart rate variability, high frequency 1). C57BL/6J-derived alleles at Hrvhf1 confer increased high frequency heart rate variability. Drd5(23 cM; 38.7 Mb) and Ppargc1a (51.8 Mb) are potential candidate genes for Hrvhf1. Suggestive linkage to high frequency heart rate variability mapped to 51 Mb on mouse Chromosome 2 near rs3720957 (LOD=2.165), 83.09 Mb on mouse Chromosome 11 near rs13481126 (LOD=2.017), and 89.7 Mb on mouse Chromosome 15 near rs13482701 (LOD=2.147).

Suggestive linkage to low frequency heart rate variability mapped to 73.1 Mb on mouse Chromosome 16 near rs4202837 (LOD=2.329).

References

• Original: J:138212 Howden R, et al., The genetic contribution to heart rate and heart rate variability in quiescent mice. Am J Physiol Heart Circ Physiol. 2008 Jul;295(1):H59-68
• All: 1 reference(s)