Bmd22^129S1/SvImJ
QTL Variant Detail

Summary

• QTL variant: Bmd22^129S1/SvImJ
• Name: bone mineral density 22; 129S1/SvImJ
• MGI ID: MGI:3619546
• QTL: Bmd22 Location: unknown Genetic Position: Chr1, Syntenic

Variant origin

• Strain of Specimen: 129S1/SvImJ

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased total and vertebral BMD compared to C57BL/6J. (J:106113)
• Inheritance: Not Specified

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:106113

QTL involved in bone mineral density were mapped using 291 female animals from a (C57BL/6J x 129S1/SvImJ)F2 intercross and 88 polymorphic markers spaced approximately 20 cM apart. At 6 weeks of age, F2 animals were fed a high fat diet for 14 weeks beforetotal body area bone mineral (aBMD) density and lumbar vertebrae aBMD were measured. Parental strain C57BL/6J exhibits significantly lower total body aBMD and vertebral aBMD compared to parental strain 129S1/SvImJ.

Bmd23 reached suggestive significance for vertebral aBMD at 44 cM on mouse Chromosome 7 near D7Mit300 (LOD=2.7). The 95% confidence interval for Bmd23 spans 26 cM - 60 cM. C57BL/6J-derived alleles at Bmd23 confer increased vertebral aBMD. Bmd23 maps near Bmd9 which was previously identified in J:78754 in 2001 using a (C57BL/6J x C3H/HeJ)F2 cross.

A previously identified bone QTL named Bomd1 (44 cM) maps near this locus. Haplotype analysis of the Bmd17 interval was performed using 183 single nucleotide polymorphisms (SNPs) at an average spacing of 0.23 Mb, which narrowed the QTL interval to a 9.9 cM region. Sox6 (55 cM) is a potential candidate genes located within this interval. Pth and Calca were excluded from the refined interval.

Novel QTL Bmd20 mapped to mouse Chromosome 6 near D6Mit209 (32.5 cM). Bmd20 shows significant linkageto total body aBMD at 26 cM(LOD=3.8) and vertebral aBMD at 32 cM (LOD=3.6). The 95% confidence interval of Bmd20 spans 10 cM - 40 cM and 129S1/SvImJ-derived alleles at this locus confer increased total and vertebral aBMD. Ghrhr (26 cM) isa potential candidate gene for Bmd20.

NovelQTL Bmd21 mapped to 68 cM on mouse Chromosome 10 near D10Mit35 (LOD=3). Bmd21 shows significant linkage to total body aBMD with C57BL/6J-derived alleles conferring dominantly-inherited increase in total aBMD. The 95% confidence interval of Bmd21 spans 46cM - 68 cM. A previously identified QTL named Nhdlq4 (70 cM) maps near Bmd21.

Bmd22 shows suggestive linkage to total body aBMD near D1Mit406 (104 cM; LOD=2.5) and vertebral aBMD near D1Mit115 (98 cM; LOD=2.6). The 95% confidence interval of Bmd22 spans80 cM - 109 cM. 129S1/SvImJ-derived alleles at this locus confer increased total and vertebral aBMD. Previously identified bone QTL mapping near Bmd22 include Bmd1 (87.9 cM), Bmd5 (81.6 cM), Bomd5 (101.5 cM), and Tbbmd1 (110.4 cM). An obesity QTL named Obq17 (74 cM) also maps near Bmd22.

References

• Original: J:106113 Ishimori N, et al., Quantitative trait loci that determine BMD in C57BL/6J and 129S1/SvImJ inbred mice. J Bone Miner Res. 2006 Jan;21(1):105-12
• All: 1 reference(s)