Alplq1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Alplq1^C57BL/6J
• Name: alkaline phosphatase levels QTL 1, males only; C57BL/6J
• MGI ID: MGI:5792527
• QTL: Alplq1 Location: unknown Genetic Position: Chr4, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Inheritance: Not Specified

Notes

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

J:187975

Linkage analysis was performed on a mapping population of (C57BL/6J x DBA/2J) BXD mice to identify QTL related to metabolism. The authors systematically generated quantitative data for 140 standardized phenotypes, including glucose response, body weight change, physical activity, and oxygen consumption, across a large subset of the BXD family by using adult males and females. They used a set of 43 BXD strains - 24 strains with male and female animals, 18 strains only with males, and 1 strain only with females. All coordinates are relative to the Build 37 Mus musculus genome assembly from NCBI and the Mouse Genome Sequencing Consortium (MGSCv37). Eighteen QTL reaching genome-wide significance were identified:

QTL Alplq1 (alkaline phosphatase levels QTL 1, males only) maps to Chromosome 4 with a peak LOD score of 6.8 at 131.5 Mb. Variation in alkaline phosphatase was linked to hypophosphatasia in lines containing the C57BL/6J allelic variant. Downstream of this hypophosphatasia, differences in bone structure were noted, as well as a significant increase in pyridoxal-phosphate (PLP) levels and a corresponding decrease in pyrixodal levels.

QTL Alplq2 (alkaline phosphatase levels QTL 2, females only) maps to Chromosome 4 with a peak LOD score of 6.6 at 139.3 Mb. Variation in alkaline phosphatase was linked to hypophosphatasia in lines containing the C57BL/6J allelic variant. Downstream of this hypophosphatasia, differences in bone structure were noted, as well as a significant increase in pyridoxal-phosphate (PLP) levels and a corresponding decrease in pyrixodal levels.

QTL Rbcvq1 (red blood cell volume QTL 1, males only) maps to Chromosome 7 with a peak LOD score of 6.1 at 114.5 Mb.

QTL Rbcvq2 (red blood cell volume QTL 2, females only) maps to Chromosome 7 with a peak LOD score of 5.5 at 114.5 Mb.

QTL Wbcc4 (white blood cell count 4, females only) maps to Chromosome 10 with a peak LOD score of 5.5 at 120.1 Mb.

QTL Hbbcq1 (hemoglobin concentration QTL 1, males only) maps to Chromosome 7 with a peak LOD score of 5.1 at 111.3 Mb.

QTL Hbbcq2 (hemoglobin concentration QTL 2, females only) maps to Chromosome 7 with a peak LOD score of 4.0 at 114.5 Mb.

QTL Co2pq1 (carbon dioxide production QTL 1, males only) maps to Chromosome 1 with a peak LOD score of 4.8 at 57.9 Mb.

QTL Hctq2 (hematocrit QTL 2, males only) maps to Chromosome 7 with a peak LOD score of 4.8 at 114.5 Mb.

QTL Sysbp4 (systolic blood pressure 4, males only) maps to Chromosome 9 with a peak LOD score of 4.7 at 113.2 Mb.

QTL Hrq7 (heart rate QTL 7, females only) maps to Chromosome 19 with a peak LOD score of 4.5 at 33.0 Mb.

QTL Bsaq1 (bone surface area QTL 1, females only) maps to Chromosome 13 with a peak LOD score of 4.4 at 71.1 Mb.

QTL Flgu3 (fasting glucose 3, females only) maps to Chromosome 6 with a peak LOD score of 4.3 at 149.0 Mb.

QTL Rerq1 (respiratory exchange ratio (VCO2/VO2) QTL1, females only) maps to Chromosome 9 with a peak LOD score of 4.3 at 83.6 Mb.

QTL Gripgtt1 (glucose response to intraperitoneal glucose tolerance test 1, males only) maps to Chromosome 9 with a peak LOD score of 4.1 at 103.8 Mb.

QTL Wbcc5 (white blood cell count 5, males only) maps to Chromosome 3 with a peak LOD score of 4.1 at 28.3 Mb.

QTL Bsaq2 (bone surface area QTL 2, males only) maps to Chromosome 5 with a peak LOD score of 4.1 at 74.2 Mb.

QTL Phoslq1 (phosphorus level QTL 1, males only) maps to Chromosome 17 with a peak LOD score of 4.0 at 65.3 Mb.

References

• Original: J:187975 Andreux PA, et al., Systems Genetics of Metabolism: The Use of the BXD Murine Reference Panel for Multiscalar Integration of Traits. Cell. 2012 Sep 14;150(6):1287-99
• All: 1 reference(s)