Fbtq3^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Fbtq3^C57BL/6J
• Name: femoral bone trait QTL 3; C57BL/6J
• MGI ID: MGI:3701639
• QTL: Fbtq3 Location: Chr8:117965309-117965439 bp Genetic Position: Chr8, cM position of peak correlated region/allele: 63.84 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
• Mutation details: This allele confers increased femur stiffness, polar moment of inertia, and load to failure compared to C3H/HeJ. (J:111321)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Notes

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

J:111321

Linkage analysis was performed on 999 female animals from a (C57BL/6J x C3H/HeJ)F2 intercross to identify QTLs associated with femoral bone biomechanical, structural, and density traits. Animals were phenotyped at 16 weeks of age and genotyped for 107 polymorphic markers at an average spacing of 18.5 cM.

Significant linkage to total volumetric bone mineral density (LOD=21), cortical bone mineral density (LOD=10), and femoral biomechanical traits (LOD=6) mapped to 71 cM on mouse Chromosome 1. The second principal component analysis reached LOD=9. This locus is named Fbtq1 (femoral bone trait QTL 1). Fembrs5 (101.5 cM), a previously identified femur breaking strength QTL, maps near this locus.

A significant pleiotropic locus mapped to 70 cM - 100 cM on mouse Chromosome 4 near D4Mit124. This locus is named Fbtq2 (femoral bone trait QTL 2). Fbtq2 displays linkage to bone biomechanical traits (LOD>16), femoral structure traits (LOD>16), and bone density traits (LOD>8) with C3H/HeJ-derived alleles conferringincreased values.

Significant linkage to femoral structure traits (LOD=14) and biomechanical traits (LOD>4) mapped to 60 cM on mouse Chromosome 8. The second principal component analysis reached LOD=5. This locus is named Fbtq3 (femoral bone trait QTL 3). The QTL interval spans approximately 50 cM - 85 cM and the closest linked marker is D8Mit167. F2 animals homozygous for C57BL/6J-derived alleles at Fbtq3 exhibit increased bone structure traits and biomechanical traits. Fembrs2 (20 cM), a previously identified QTL, also maps to chromosome 8, although more proximally.

Significant linkage to bone biomechanical traits (LOD>9) mapped to 18 cM on mouse Chromosome 10 near D10Mit3. The QTL interval spans approximately 0 cM - 35 cM. This locus is named Fbtq4(femoral bone trait QTL 4). C3H/HeJ-derived alleles at Fbtq4 confer increased bone biomechanical traits.

On mouse Chromosome 12, linkage to bone biomechanical traits (LOD>6) and volumetric bone density (LOD=4) mapped to 7 cM. This locus is named Fbtq5 (femoral bone trait QTL 5). C3H/HeJ-derived alleles at Fbtq5 confer increased biomechanical traits and bone mineral density (BMD).

Distal chromosome 13 shows significant linkage to bone biomechanical traits (LOD>8) and bone structural traits (LOD=10). This locus is named Fbtq6 (femoral bone trait QTL 6). The QTL interval spans approximately 40 cM - 70 cM and the closest linked marker is D13Mit226. A locus at 15 cM on chromosome 13 shows linkage tobone density traits (LOD>6) and is named Fbtq7 (femoral bone trait QTL 7). C3H/HeJ-derived alleles at Fbtq6 and Fbtq7 confer increased bone density and bone biomechanical and structural traits.

Significant linkage to bone biomechanical traits (LOD>8) and bone density traits (LOD=6) mapped to 37 cM on mouse Chromosome 14near D14Mit166. The first principal component analysis reached LOD=7. This locus is named Fbtq8 (femoral bone trait QTL 8) and the QTL interval spans approximately 30 cM - 60 cM. C3H/HeJ-derived alleles at Fbtq8 confer increased bone density and biomechanical traits.

Linkage to bone structural trait moment of inertia (LOD=5) mapped to mouse Chromosome 17, however a cM was not indicated. The second principal component analysis reached LOD=8.

Total volumetric BMD (LOD=9) and biomechanical trait load tofailure (LOD=5) mapped to mouse Chromosome 18, however a cM position was not indicated.

References

• Original: J:111321 Koller DL, et al., Genetic effects for femoral biomechanics, structure, and density in C57BL/6J and C3H/HeJ inbred mouse strains. J Bone Miner Res. 2003 Oct;18(10):1758-65
• All: 1 reference(s)