Hemq5^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Hemq5^C57BL/6J
• Name: hematocrit QTL 5; C57BL/6J
• MGI ID: MGI:3652979
• QTL: Hemq5 Location: unknown Genetic Position: Chr16, cM position of peak correlated region/allele: 57.06 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased hematocrit at 450 and 750 days of age compared to DBA/2J. (J:110791)

Notes

In a BXD RI analysis, Hemq5 is linked to hematocrit in male mice at 750 days.

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

J:110791

Linkage analysis using 96 microsatellite markers spaced 15 cM - 20 cM apart was performed on animals from a (C57BL/6J x DBA/2J)F2 intercross to identify QTLs associated with hematocrit measurements at 150-, 450-, and 750-days of age. Parental strain C57BL/6J exhibits lower hematocrit at age 150 days compared to parental strain DBA/2J, but at age 450 days exhibits significantly increased hematocrit compared to DBA/2J. At age 750 days C57BL/6J and DBA/2J do not exhibit significant differences in hematocritlevels. QTLs identified in the F2 intercross were then confirmed using 23 BXD recombinant inbred (RI) strains screened for a panel of 5773 SNPs.

On mouse Chromosome 1, Hemq1 (hematocrit QTL 1) mapped to 68 cM (114 Mb) near D1Mit87 (LOD=5.2). The 1-LOD confidence interval spans 54 cM - 79 cM. DBA/2J-derived alleles at Hemq1 confer increased hematocrit in all age groups (150, 450, and 750 days). Scfr1 (98 cM) is a previously identified stem cell regulatory QTL mapping near Hemq1.

On mouse Chromosome 2, Hemq2 (hematocrit QTL 2) mapped to 82 cM (168 Mb) near D2Mit343 (LOD=4.5). The 1-LOD confidence interval spans 50 cM - 99 cM. C57BL/6J-derived alleles at Hemq2 confer increased hematocrit in all age groups (150, 450, and 750 days). In the BXD RI set, Hemq2influences hematocrit in male animals at age 150 days, but is active in female animals at age 450 days. Vav2 at 15.3 cM was named as a potential candidate gene for Hemq2. Scpro5 (72 cM) and Hrec (75 cM) are previously identified QTLs mapping hear Hemq2.

On mouse Chromosome 7, Hemq3 (hematocrit QTL 3) mapped to 41.4 cM (109 Mb) near D7Mit253 (LOD=4.9). The 1-LOD confidence interval spans 34.4 cM - 49.4 cM. C57BL/6J-derived alleles at Hemq3 confer increased hematocrit at age 150 and 450 days, but DBA/2J-derived alleles confer increased hematocrit at age 750 days. Previously identified QTLs mapping near Hemq3 include Scpro1 (6 cM) and Scpro8 (50 cM).

On mouse Chromosome 11, Hemq4 (hematocrit QTL 4) mapped to 13 cM (17 Mb) near D11Mit227 (LOD=4.1). The 1-LOD confidence interval spans 4 cM - 43 cM. DBA/2J-derived alleles at Hemq4 confer increased hematocrit in all age groups (150, 450, and 750 days). In the BXD RI set, Hemq4 influences hematocrit in male animals at 450 and 750 days ofage, and influences hematocrit in females at 750 days only. Scpro2 (31 cM) is a previously identified stem cell proliferation QTL mapping near Hemq4.

On mouse Chromosome 16, Hemq5 (hematocrit QTL 5) mapped to 70.7 cM (41 Mb) near D16Mit71 (LOD=4.0). The 1-LOD confidence interval spans 66.3 cM - 77.7 cM. DBA/2J-derived alleles at Hemq5 confer increased hematocrit at age 150 days, but C57BL/6J-derived alleles confer increased hematocrit at age 450 and 750 days. In the BXD RI set, Hemq5 is linked to hemotocrit in males at age 750 days. Runx1 at 62.2 cM was named as a strong candidate gene for Hemq5.

On mouse Chromosome 19, Hemq6 (hematocrit QTL 6) mapped to 14.5 Mb in linkage to hematocrit in males aged 150 days. This locus was detected in the BXD RI setonly. C57BL/6J-derived alleles at Hemq6 confer increased hematocrit in male animals at 150 days of age.

Suggestive linkage to hematocrit in males at 150 days mapped to 93.6 Mb on mouse Chromosome 8. Suggestive linkage to hematocrit in males at 450 days and in females at 150 and 450days mapped to 48.8 Mb - 50.8 Mb on mouse Chromosome 14. Suggestive linkage to hematocrit in males at 750 days mapped to 7.6 Mb on mouse Chromosome 4 and to 89.1 Mb on mouse Chromosome 6. Suggestive linkage to hematocrit in female animals at 150days mapped to 109 Mb on mouse Chromosome 9.

References

• Original: J:110791 Johannes F, et al., QTL influencing baseline hematocrit in the C57BL/6J and DBA/2J lineage: age-related effects. Mamm Genome. 2006 Jun;17(6):689-99
• All: 1 reference(s)