Cq1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Cq1^C57BL/6J
• Name: cholesterol QTL 1; C57BL/6J
• MGI ID: MGI:2153948
• QTL: Cq1 Location: Chr1:156452188-156452308 bp Genetic Position: Chr1, cM position of peak correlated region/allele: 67.71 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
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

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

J:54322

95 microsatellite markers at an average density of 14.4-16.5 cM were used to map loci affecting obesity-associated plasma lipid concentrations in 190 (C57BL/6J x KK-Ay)F2 animals. KK-Ay animals develop severe obesity and elevated plasma lipid concentrations while C57BL/6J remain lean with lower lipid levels. F2 animals of genotype a/a at the agouti locus have an intermediate plasma cholesterol phenotype while F2 animals of genotype Ay/a have a plasma cholesterol phenotype resembling the KK-Ay parental strain.

Three QTLs involved in plasma cholesterol concentrations were identified: Cq1 (LOD = 4.6) and Cq2 (LOD = 5) are linked to D1Mit425 and D1Mit150, respectively, on mouse chromosome 1, and Cq3 (LOD = 4.3) is linked to D3Mit102 on chromosome 3.

Cq2 in linkage with D1Mit150 maps to within 1.1 cM of the Apoa2 locus. Sequencing of Apoa2 cDNA in C57BL/6J and KK revealed 7 nucleotide substitutions (resulting in 3 amino acid substitutions) within the open reading frame.

Nq1 (LOD = 4.3), a QTL involved in plasma NEFA (non-esterified fatty acids) concentrations, mapped to chromosome 9 in association with D9Mit353.

References

• Original: J:54322 Suto J, et al., Quantitative trait loci that regulate plasma lipid concentration in hereditary obese KK and KK-Ay mice. Biochim Biophys Acta. 1999 Mar 30;1453(3):385-95
• All: 1 reference(s)