Mchq7^SM/J
QTL Variant Detail

Summary

• QTL variant: Mchq7^SM/J
• Name: mean corpuscular hemoglobin QTL 7; SM/J
• MGI ID: MGI:5812196
• QTL: Mchq7 Location: unknown Genetic Position: Chr10, Syntenic

Variant origin

• Strain of Specimen: SM/J

Variant description

• Allele Type: QTL

Notes

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

J:182607

Blood cells perform an integral role in critical physiological processes from oxygen transport to blood clotting and assorted aspects of infection and immunity. To identify the genetic determinants of red cell parameters, genome-wide association analysis was performed on (LG/J SM/J) F2 and F34 advanced intercross lines using single nucleotide polymorphism genotyping and a novel algorithm for mapping in the combined populations.

To identify candidate genes within QTL mouse genome, expression, published data and LG/J and SM/J genomic sequences were used with a focus on genes with non-synonymous coding SNPs.

LG/J and SM/J mice have been used effectively in studies on a variety of physiologic and

pathophysiologic processes including body weight, diabetes, lipid metabolism, wound

healing and obesity. This study may be one of the first to use these strains and

the first to use AILs to investigate genetic determinants of red blood cell parameters. These strains were also chosen given the known parental genotypes and phenotypes.

462 (LG/J xSM/J) F2 mice (230 females, 232 males) were generated from F1 mice bred from inbred male SM/J and female LG/J mice. 472 F34 mice (231 females, 241 males) were generated from 119 F33 mice of known pedigree back to the original founders.

All mice were involved in a behavioral study after which anticoagulated whole blood was harvested by retro-orbital bleed at 13-14.5 weeks and analyzed by complete blood counts (CBC) to measure several quantitative traits representative of red cell physiology and metabolism, within 48 hours.

F2 and F34 mice were genotyped for 162 and ~4000 evenly-spaced SNPs respectively using the R package QTLRel that accounted for complex relationships among F34 mice.

[Sup Table 1] Using genotype and complete blood count (CBC) data from the F2 and F34 mice significant QTLs were detected for:

mean corpuscular hemoglobin levels (MCH)

mean corpuscular volumes (MCV),

hemoglobin levels (HGB),

red blood cell counts (RBC)

and mean corpuscular hemoglobin concentrations (MCHC)

on chromosomes 6, 7, 8, 10, 12 and 17:

On Chromosome 10 a QTL influencing mean corpuscular hemoglobin was detected mapping between 28.4 and 129.0 Mb with a LOD score of 5.6 in the F2 analysis. This QTL was resolved into six individual QTL in the analysis of the combined F2 and F34 data:

Mchq5 (mean corpuscular hemoglobin QTL 5) mapped between 88.6 and 90.4 Mb (41.3-42.0 cM) on Chr 10 with a LOD score of 5.0.

Mchq6 (mean corpuscular hemoglobin QTL 6) mapped between 92.4 and 93.5 Mb (43.9-44.4 cM) on Chr 10 with a LOD score of 4.6.

Mchq7 (mean corpuscular hemoglobin QTL 7) mapped between 95.0 and 104.1 Mb (46.3-49.9 cM) on Chr 10 with a LOD score of 8.0.

Mchq8 (mean corpuscular hemoglobin QTL 8) mapped between 106.9 and 110.6 Mb (52.4-53.1 cM) on Chr 10 with a LOD score of 5.4.

Mchq9 (mean corpuscular hemoglobin QTL 9) mapped between 111.7 and 114.2 Mb (55.6-56.3 cM) on Chr 10 with a LOD score of 4.6.

Mchq10 (mean corpuscular hemoglobin QTL 10) mapped between 118.9 and 123.6 Mb (62.5-68.3 cM) on Chr 10 with a LOD score of 6.4.

Genes Kitl, Cdk4 and Id2 are proposed candidate genes influeincing the Mchq QTL mapping to Chromosome 10. [Fig 5.A.B.]

References

• Original: J:182607 Bartnikas TB, et al., QTLs for murine red blood cell parameters in LG/J and SM/J F(2) and advanced intercross lines. Mamm Genome. 2012 Jun;23(5-6):356-66
• All: 1 reference(s)