Athsq1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Athsq1^C57BL/6J
• Name: atherosclerosis susceptibility QTL 1; C57BL/6J
• MGI ID: MGI:2155676
• QTL: Athsq1 Location: Chr4:137617848-151654550 bp Genetic Position: Chr4, cM position of peak correlated region/allele: 70.02 cM
• QTL Note: genome coordinates based on the boundaries of the QTL region

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• Mutation details: This allele confers resistance to atherosclerosis in female animals compared to MOLF/Ei. This allele confers increased aortic lesion area in females on a high fat diet compared to C3H/HeJ. (J:140288)
• 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 less relative to MOLF/Ei in female mice only - J:70259

Wang et al (J:140288) identified Athsq1 in F2 animals homozygous for Apoe^tm1Unc but now considered Athsq3.

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. Athsq1 (LOD = 6.2 at D4Mit127) maps to a locus spanning D4Mit54 (66 cM) - D4Mit42 (81 cM) on Chromosome 4. MOLF/Ei alleles at Athsq1 confer dominant susceptibility to atherosclerosis (i.e., increased mean lesion size) in 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: 2 reference(s)