Athsq2^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Athsq2^C57BL/6J
• Name: atherosclerosis susceptibility QTL 2; C57BL/6J
• MGI ID: MGI:2156388
• QTL: Athsq2 Location: Chr6:134059949-134060086 bp Genetic Position: Chr6, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers susceptibility to atherosclerosis compared to MOLF/Ei. (J:70259)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

Trait Annotation
(using the Vertebrate Trait Ontology)

organ system trait

circulatory system morphology trait

blood vessel morphology trait

aorta integrity trait - VT:0010602

aortic root lesion size is increased relative to MOLF/Ei - J:70259

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

J:70259

174 (MOLF/Ei x B6.129S7-Ldlrtm1Her) x C57BL/6J-Ldlrtm1Her backcross animals were used in a mapping study to identify QTLs affecting atheroscerlosis susceptibility. Ldlr knockout animals develop elevated plasma LDL levels and larger atherosclerotic lesions in response to Western-style diet compared to non-knockout animals. Two novel QTLs, Athsq1 and Athsq2, affecting lesion size were mapped to mouse Chromosomes 4 and 6 respectively. Athsq2 (LOD = 6.7 at D6Mit110) maps to a locus spanning D6Mit216 (58.6 cM) to D6Mit198 (67.0 cM) on Chromosome 6. C57BL/6J alleles at Athsq2 confer recessive susceptibility to atherosclerosis in both male and female mice. Mice inheriting susceptibility alleles at both loci exhibit 2-fold increase in mean lesion size, indicating an additive effect for Athsq1 and Athsq2. Two-way ANOVA analysis revealed no evidence of interactions between Athsq1 and Athsq2. Other phenotypes associated with atherosclerosis susceptibility (plasma total cholesterol, HDL cholesterol, non-HDL cholesterol, triglycerides, insulin, and body weight) did not show linkage to Athsq1 or Athsq2.

References

• Original: J:70259 Welch CL, et al., Localization of atherosclerosis susceptibility loci to chromosomes 4 and 6 using the Ldlr knockout mouse model. Proc Natl Acad Sci U S A. 2001 Jul 3;98(14):7946-51
• All: 1 reference(s)