Bmch5^C3H/HeJ
QTL Variant Detail

Summary

• QTL variant: Bmch5^C3H/HeJ
• Name: bone mechanical trait 5; C3H/HeJ
• MGI ID: MGI:3511328
• QTL: Bmch5 Location: unknown Genetic Position: Chr11, cM position of peak correlated region/allele: 7.3 cM
• QTL Note: genome coordinates based on the boundaries of the QTL region

Variant origin

• Strain of Specimen: C3H/HeJ

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased bone mechanical traits compared to DBA/2J. (J:92584)

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:92584

Linkage analysis was performed on 486 UM-HET3 stock animals to identify QTLs associated with bone mechanical traits. 86 microsatellite markers at an average spacing of 15-20 cM were used in the genome scan. UM-HET3 animals are derived from a (BALB/cJ x C57BL/6J)F1 x (C3H/HeJ x DBA/2J)F1 outcross. Loci with statistical significance P<0.05 were reported.

Linkage to displacement ratio mapped to mouse Chromosome 2 at 41.5 cM (D2Mit434, P=0.033) and 86 cM (D2Mit285, P=0.049). This locus is named Bmch1 (bone mechanical trait 1). Bmch1 is paternally inherited with C3H/HeJ-derived alleles conferring increased displacement ratio compared to the DBA/2J-derived allele. Bmch1 explains 4.37% of the variance for displacement ratio. Authors note this locus may containmore than 1 QTL.

Linkage to yield load mapped to mouse Chromosome 4 at 19.8 cM (D4Mit55, P=0.048), 37.7 cM (D4Mit84, P=0.034), and 49.6 cM (D4Mit155, P=0.025). D4Mit155 also shows linkage to ultimate load. This locus is named Bmch2. Bmch2 is paternally inherited with C3H/HeJ-derived alleles conferring increased yield load compared to the DBA/2J-derived allele. Bmch2 explains 3.72% of the variance for yield load and 2.9% of the variance for ultimate load.

Linkage to predicted ultimate strength mapped tomouse Chromosome 7 at 16 cM (D7Mit25, P=0.012), 28.1 cM (D7Mit91, P<0.001), and 52.8 cM (D7Mit253, P=0.027). This locus is named Bmch3. Bmch3 is paternally inherited with DBA/2J-derived alleles conferring increased predicted ultimate strength compared tothe C3H/HeJ-derived allele. Bmch3 accounts for 5.14% of the variance for predicted ultimate strength.

Linkage to ultimate displacement (P=0.006) and post-yield displacement (P=0.036) mapped to mouse Chromosome 10 at 29 cM (D10Mit40). This locus is namedBmch4. Bmch4 is paternally inherited with C3H/HeJ-derived alleles conferring increased displacement values compared to the DBA/2J-derived allele. Bmch4 explains 3.52% of the variance for ultimate displacement and 2.86% of the variance for post-yield displacement.

Linkage to stiffness, yield load, predicted modulus, and predicted ultimate strength mapped to mouse Chromosome 11. Stiffness shows linkage at 2.4 cM (D11Mit2) and 16 cM (D11Mit83), yield load shows linkage to a region spanning 2.4 cM - 55 cM, predicted modulus shows linkage to a region spanning 16 cM - 55 cM, and predicted ultimate strength shows linkage at 55 cM (D11Mit289). This QTL is named Bmch5. Bmch5 shows mostly paternal inheritance with C3H/HeJ-derived alleles conferring increased bonemechanical traits compared to the DBA/2J-derived allele. Maternal inheritance was observed at 16 cM with the BALB/cJ-derived allele conferring increased predicted modulus compared to the C57BL/6J-derived allele. Bmch5 explains 5.8% of the variance for bone stiffness, 7.27% of the variance for yield load, 6.85% of the variance for predicted modulus, and 4.96% of the predicted ultimate strength for the paternally inherited effects. The maternal effect accounts for 4.72% of the variance for predicted modulus.

Linkage to predicted modulus mapped to mouse Chromosome 13 at 38 cM (D13Mit26, P=0.019). This locus is named Bmch6. Bmch6 is maternally inherited with BALB/cJ-derived alleles conferring increased predicted modulus compared to the C57BL/6J-derived allele. Bmch6 explains 3.12% of the phenotypic variance.

Linkage to predicted modulus mapped to mouse Chromosome 17 at 40.6 cM (D17Mit185, P=0.017). This locus is named Bmch7. Bmch7 is paternally inherited with C3H/HeJ-derived alleles conferring increased predicted modulus compared to the DBA/2J-derived allele. Bmch7 explains 3.07% of the phenotypic variance.

References

• Original: J:92584 Volkman SK, et al., Quantitative trait loci that modulate femoral mechanical properties in a genetically heterogeneous mouse population. J Bone Miner Res. 2004 Sep;19(9):1497-505
• All: 1 reference(s)