Sbmd1^AKR/J
QTL Variant Detail

Summary

• QTL variant: Sbmd1^AKR/J
• Name: spinal bone mineral density 1; AKR/J
• MGI ID: MGI:2662979
• QTL: Sbmd1 Location: unknown Genetic Position: Chr2, cM position of peak correlated region/allele: 21.81 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: AKR/J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased spinal bone mineral density compared to SAMP6. (J:78755)

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:78755

Linkage analysis was performed on two separate intercross populations to identify QTLs associated with bone mineral density. The parental strains studied were AKR/J, SAMR1, and SAMP6. SAMP6 animals exhibit lower bone mineral density compared to SAMR1 andAKR/J animals.

Sbmd1 was identified in the (AKR/J x SAMP6)F2 cross and spans a broad QTL range from 1 cM - 18 cM on mouse Chromosome 2 with a peak LOD score of 4.05. AKR/J-derived alleles confer increased bone density at this locus. Possible candidate genes in the region of Sbmd1 are Col5a1, Ptgs1, Ptdgs, Il1rn, Il2ra, and Il15ra. Sbmd2 was identified in the (SAMR1 x SAMP6)F2 cross and gives a sharp peak at D2Mit296 (18 cM) on chromosome 2 with a LOD score of 3.6. SAMR1-derived alleles confer increased bone mineral density at this locus. Possible candidate genes for Sbmd2 are Itga6, Ptgs1, Itga4, and Itgav. Sbmd1 and Sbmd2 map in close proximity on mouse Chromosome 2 but appear to be separate QTLs. The marker D2Mit296 is shows high significance in both crosses.

Sbmd3 was identified in the (SAMR1 x SAMP6)F2 cross and maps to 11 cM on mouse Chromosome 7. SAMP6-derived alleles confer increased bone mineral density at this locus.

Sbmd4 was identified in the (AKR/J x SAMP6)F2 cross and maps to 49 cM on mouse Chromosome 11 with peak linkage at D11Mit284 (LOD=5.4). SAMP6-derived alleles confer increased bone mineral density at this locus. Candidate genes mapping to the region of Sbmd4 are Vtn, Nog, Pitpn, Csf3, Col1a1, and Cryba1.

The allele effects of these QTLs are mostly additive.

References

• Original: J:78755 Benes H, et al., Chromosomal mapping of osteopenia-associated quantitative trait loci using closely related mouse strains. J Bone Miner Res. 2000 Apr;15(4):626-33
• All: 1 reference(s)