Abcc6^{Dyscalc1-C3H/DiSnA}
QTL Variant Detail

Summary

• QTL variant: Abcc6^{Dyscalc1-C3H/DiSnA}
• Name: ATP-binding cassette, sub-family C member 6; C3H/DiSnA
• MGI ID: MGI:2384503
• QTL: Abcc6 Location: Chr7:45625804-45679915 bp, - strand Genetic Position: Chr7, 29.64 cM, cytoband B3

Variant origin

• Strain of Specimen: C3H/DiSnA

Variant description

• Allele Type: QTL
• Inheritance: Recessive

Notes

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

J:72021

135 microsatellite markers were typed in 185 (C57BL/6J x C3H/HeJ)F2 female animals to identify loci associated with dystrophic cardiac calcinosis. Animals were placed on a high fat, high cholesterol diet at 3 months of age to induce the phenotype. Parental strain C57BL/6J is resistant to dystrophic cardiac calcinosis whereas C3H/HeJ is susceptible. A previously mapped locus on mouse Chromosome 7, Dyscalc1, mapped in this study with a LOD score of 14.8 at D7Mit229 (15 cM - 24.5 cM) and 3 novel loci were identified. Dyscalc2 mapped to mouse Chromosome 4 spanning 50 cM - 80 cM (LOD = 4.7 at D4Mit16), Dyscalc3 mapped to mouse Chromosome 12 from 1 cM - 10 cM (LOD = 3.5 at D12Mit37), and Dyscalc4 mapped to mouse Chromosome 14 from 10 cM - 30 cM (LOD = 3.7 at D14Mit133). Additive epistasis between Dyscalc1 and Dyscalc2 was detected. Several potential candidate genes map near Dyscalc1 and include Dmwd, Dm15, Ckmm, Slc8a2, Calm1, Fosb, Tnni3, Hrc, and Bax. Possible candidate genes for Dyscalc2 and Dyscalc4 are Bmp8a and Bmp4, respectively. No candidate genes for Dyscalc3 have been identified.

J:182797

Linkage analysis was performed on 332 (B6.129P2-Apoe^tm1Unc/J x C3.129P2(B6)-Apoe^tm1Unc)F2 intercross mice using 1347 markers to identify QTL associated with aortic medial calcification. Parental strain C3H/HeJ displays higher susceptibility to aortic medial disruption than C57BL/6J.

QTL Mcal4 maps to 25.9 - 101.3 Mb on Chromosome 7 with a peak LOD score of 4.60 (sex-covariate) or 4.85 (sex-interaction) at 38.9 cM in linkage with aortic medial calcification. C57BL/6J alleles confer decreased susceptibility to aortic medial calcification at the Mcal4 locus. Abcc6 is reported as an Mcal4 candidate gene.

References

• Original: J:76777 Colinayo VV, et al., Genetic characterization of the Dyscalc locus. Mamm Genome. 2002 Jun;13(6):283-8
• All: 1 reference(s)