Rbcq1^SM/J
QTL Variant Detail

Summary

• QTL variant: Rbcq1^SM/J
• Name: red blood cell QTL 1; SM/J
• MGI ID: MGI:3622228
• QTL: Rbcq1 Location: unknown Genetic Position: Chr1, cM position of peak correlated region/allele: 50.78 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: SM/J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers increased red blood cell count compared to NZW/LacJ. (J:107220)
• Inheritance: Recessive

Notes

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

J:107220

Linkage analysis was performed on 186 animals each from (NZW/LacJ x SM/J)F2 and (C57BLKS/J x SM/J)F2 intercrosses using 88 microsatellite markers at an average spacing of 10 cM - 30 cM to identify QTL associated with baseline erythroid parameters. F2 animals were phenotyped at 8 weeks of age for several blood traits: red blood cell (RBC) count, hemoglobin (Hgb) and hematocrit (Hct) levels, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean cell hemoglobin concentration (CHCM).

On mouse Chromosome 1, Rbcq1 (red blood cell QTL 1) mapped to 62 cM (115 Mb) near D1Mit308 (LOD=3.4). The 95% confidence interval of Rbcq1 spans 34 cM - 74 cM and the region is syntenic to human Chromosome 18q21. This locus explains 3.8% of the phenotypic variance. SM/J-derived alleles at Rbcq1 confer increased RBC count with a recessive mode of inheritance.

On mouse Chromosome 2, Chcmq1 (mean cell hemoglobin concentration QTL 1) mapped to 48 cM (80 Mb) near D2Mit300 (LOD=4.7). The 95% confidence intervalof Chcmq1 spans 30 cM - 60 cM and is syntenic to human Chromosome 2q32. This locus accounts for 7.66% of the variance. C57BLKS/J-derived alleles at Chcmq1 confer increased CHCM with a recessive mode of inheritance.

Onmouse Chromosome 3, Hctq1 (hematocritQTL 1) mapped to 42 cM (89 Mb) near D3Mit98 (LOD=3.9). The 95% confidence interval of Hctq1 spans 30 cM - 62 cM and is syntenic to human Chromosome 1q21. This locus accounts for 9.09% of the phenotypic variance. NZW/LacJ-derived alleles at Hctq1 confer increased hematocrit levels with a recessive mode of inheritance.

On mouse Chromosome 4, Rbcq2 (red blood cell QTL 2) mapped to 60 cM (131 Mb) near D4Mit170 (LOD=5.3). The 95% confidence interval of Rbcq2 spans 50 cM - 66 cM and is syntenic to human Chromosome 1p34-p36. This locus explains 10.6% of the phenotypic variance. SM/J-derived alleles at Rbcq2 confer increased red blood cell count with a recessive mode of inheritance. Epb4.1 (65.7 cM) is a potential candidategene mapping near Rbcq2.

Regression analysis detected linkage to hematocrit levels at 60 cM on mouse Chromosome 6 with p<0.01. This locus accounts for 6.2% of the phenotypic variation. Authors did not designate a symbol for this locus.

On mouse Chromosome 7, Mcvq1 (mean corpuscular volume QTL 1) mapped to 30 cM (50 Mb) near D7Mit83 (LOD=9.8). The 95% confidence interval of Mcvq1 spans 26 cM - 38 cM and is syntenic to human Chromosome 15q14. This locus explains 9.5% of the variance in the (NZM/LacJ x SM/J)F2 cross and 6.77% in the (C57BLKS/JxSM/J)F2 cross. SM/J-derived alleles at Mcvq1 confer increased hematocrit levels with a recessive mode of inheritance.

On mouse Chromosome 9, Chcmq2 (mean cell hemoglobin concentration QTL 2) mapped to 44 cM (80Mb) near D9Mit98 (LOD=6.1). The 95% confidence interval of Chcmq2 spans 40 cM - 66 cM and is syntenic to human Chromosome 6p12 and 6q13. This locus accounts for 16.8% of the variance. SM/J-derived alleles at Chcmq2 confer increased CHCM with a dominant mode of inheritance. Multiple regressionanalysis identified an interacting locus at 32 cM on mouse Chromosome 19. Animals homozygous for C57BLKS/J-derived alleles at Chcmq2 and the chromosome 19 locus exhibit significantly increased mean cell hemoglobin concentration.

On mouse Chromosome 10,Rbcq4(red blood cell QTL 4), Mchq1 (mean corpuscular hemoglobin QTL 1), and Mcvq3 (mean corpuscular volume QTL 3) all mapped to 60 cM (112 Mb) near D10Mit150 (LOD=3.7, 4.4, and 4.7 respectively). The 95% confidenceinterval spans 40 cM - 60 cM for Rbcq4,48 cM - 60 cM for Mchq1, and 48 cM - 60 cM for Mcvq3. All 3 QTL are syntenic to human Chromosome 12q21. C57BLKS/J-derived alleles at Rbcq4 confer increased red blood cell count with a dominant mode of inheritance while at Mchq1 and Mcvq3 SM/J-derived alleles confer increased mean corpuscular hemoglobin and mean corpuscular volume with a recessive mode of inheritance. Mchq1 explains 10.3% of the mean corpuscular hemoglobin variance, and Mcvq3 explains 8.23% of the mean corpuscular volume variance. Rbcq4 appears tointeract with a locus on mouse Chromosome 8 at 26 cM, and accounts for 15.8% of the red blood cell count variance.

On mouse Chromosome 11, Mcvq2 (mean corpuscular volume QTL 2) mapped to 6 cM (12 Mb) near D11Mit2 (LOD=4.7) and Rbcq3 (red blood cellQTL 3) mapped to 34 cM (60 Mb) near D11Mit30 (LOD=3.8). The 95% confidence interval spans 0 cM - 34 cM for Mcvq2 and 18 cM - 56 cM for Rbcq3. Mcvq2 is syntenic to human Chromosome 7p13-p11 while Rbcq3 is sytenic to human Chromosome 17p11 and 1q41-q42. Heterozygosity for NZW/LacJ- and SM/J-derived alleles at Mcvq2 confer decreased mean corpuscular volume. This locus explains 8.75% of the mean corpuscular volume variance. SM/J-derived alleles at Rbcq3 confer increased red blood cell count with a dominantmode ofinheritance. This locus explains 8.8% of the red blood cell count variance.

On mouse Chromosome 16, Hgbq1 (hemoglobin QTL 1) mapped to 32 cM (44 Mb) on mouse Chromosome 16 near D16Mit60 (LOD=3.7). The95% confidence interval of Hgbq1 spans 20 cM - 42 cM and is syntenic to human Chromosome 3q12-q13. This locus explains 10.7% of the phenotypic variance. SM/J-derived alleles at Hgbq1 confer increased hemoglobin levels with a dominant mode of inheritance.

References

• Original: J:107220 Peters LL, et al., Quantitative trait loci for baseline erythroid traits. Mamm Genome. 2006 Apr;17(4):298-309
• All: 1 reference(s)