Pcho1^SJL/J
QTL Variant Detail

Summary

• QTL variant: Pcho1^SJL/J
• Name: plasma cholesterol 1; SJL/J
• MGI ID: MGI:2159292
• QTL: Pcho1 Location: Chr1:176262573-176262693 bp Genetic Position: Chr1, cM position of peak correlated region/allele: 82.24 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: SJL/J

Variant description

• Allele Type: QTL
• Inheritance: Other (see notes)

Notes

Pcho1 exhibits additive inhertance.

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

J:72738

Linkage analysis was performed on a (129P3/J x SJL/J)F1 x 129P3/J backcross population and 21 AKXD (AK=AKR/J; D=DBA2/J) recombinant inbred (RI) strains to identify QTLs associated with plasma and liver cholesterol accumulation. Linkage to liver cholesterol accumulation was detected at 67 cM on mouse Chromosome 9 (Lcho1; LOD=2.2 at D9Mit279) and linkage to plasma cholesterol accumulation was detected at 100 cM on mouse Chromosome 1 (Pcho1; LOD=4.6 at D1Mit166) in the (129P3/J x SJL/J)F1 x 129P3/J backcross population. 129P3/J is a high-absorbing strain whereas SJL/J is a low-absorbing strain. Cck and Apoa2 were identified as candidate genes for Lcho1 and Pcho1, respectively. Four loci contributing to liver cholesterol accumulation (Lcho2, Lcho3, and Lcho4) were identified in the AKXD RI strains. The AKR/J parental strain exhibits high cholesterol accumulation whereas DBA/2J exhibits low cholesterol accumulation. Lcho2 maps to mouse Chromosome 3 in linkage to Oat-rs2 with a LOD score of 3.3 at 52.4 cM. Candidate genes identified for Lcho2 are Hmgcs2, Fapb2, and Fdps. Lcho3 maps to mouse Chromosome 13 in linkage to Xmv27 with a LOD score of 1.9 at 12 cM, and Lcho4 maps to mouse Chromosome 15 in linkage to Tgn with a LOD score of 3.3 at 36.4 cM.

References

• Original: J:72738 Schwarz M, et al., Genetic analysis of cholesterol accumulation in inbred mice. J Lipid Res. 2001 Nov;42(11):1812-9
• All: 1 reference(s)