Bmd39^C3H/HeJ
QTL Variant Detail

Summary

• QTL variant: Bmd39^C3H/HeJ
• Name: bone mineral density 39; C3H/HeJ
• MGI ID: MGI:3719114
• QTL: Bmd39 Location: Chr8:32506572-117965439 bp Genetic Position: Chr8, cM position of peak correlated region/allele: 18.89 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 decreased reponsiveness to mechanical loading in males compared to C57BL/6J. (J:123678)

Notes

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

J:123678

Congenic lines were constructed to study the effects of previously identified bone mineral density BMD QTLs Bmd5 (chromosomes 1) and Bmd13 (chromosome 13) on response to mechanical loading. A novel QTL on chromosome 8 named Bmd39 was also analyzed using this method.For the Bmd5 congenic, C3H/HeJ-derived DNA from D1Mit282 (36.9 cM) - D1Mit406 (101.2 cM) was introgressed onto a C57BL/6J genetic background. Parental strain C57BL/6J is more responsive to mechanical loading compared to parental strain C3H/HeJ. Bmd13 congenics carry C3H/HeJ-derived DNA from D13Mit147 (49 cM) - D13Mit77 (73 cM), and Bmd39 congenics carry C3H/HeJ-derived DNA from D8Mit4 (14 cM) - D8Mit167 (59 cM), on a C57BL/6J background. Congenics animals are estimated to be 99.8% C57BL/6J-derived.

In the Bmd5 congenic [B6.C3-(D1Mit282-D1Mit406)], males displayed significantly decreased mechanical responsiveness (bone formation in response to loading) compared to C57BL/6J control males and congenic females displayed increased mechanical responsiveness compared to C57BL/6J control females. A previously identified QTL named Brml1 (91.8 cM) maps near Bmd5.

Bmd39 congenic males [B6.C3-(D8Mit4-D8Mit167)] also displayed significantly decreased mechanical responsiveness compared to C57BL/6J control males. This locus does not have an effect in female animals. A previously identified QTL named Brml2 (60.1 cM) maps near Bmd39.

Bmd13 congenic males [B6.C3-(D13Mit147-D13Mit77)] display significantly decreased mechanical responsiveness compared to C57BL/6J controlmales. No difference in mechanical responsiveness was observed in female animals.

References

• Original: J:123678 Robling AG, et al., Genetic effects on bone mechanotransduction in congenic mice harboring bone size and strength quantitative trait loci. J Bone Miner Res. 2007 Jul;22(7):984-91
• All: 1 reference(s)