Dyscalc2^C3H/HeJ
QTL Variant Detail

Summary

• QTL variant: Dyscalc2^C3H/HeJ
• Name: dystrophic cardiac calcinosis 2; C3H/HeJ
• MGI ID: MGI:2155603
• QTL: Dyscalc2 Location: Chr4:128009051-128009280 bp Genetic Position: Chr4, cM position of peak correlated region/allele: 61.67 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C3H/HeJ

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers susceptibility to dystrophic cardiac calcinosis (DCC) compared to C57BL/6J. (J:72021)
• Inheritance: Recessive

Notes

Dyscalc1 and Dyscal2 participate in additive epistatic interactions. Homozygosity for C3H/HeJ-derived alleles at Dyscalc1 in conjunction with a C3H/HeJ-derived allele at Dyscalc2 significantly enhances susceptibility to myocardial calcification.

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 Dm9, 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.

References

• Original: J:72021 Ivandic BT, et al., New Dyscalc loci for myocardial cell necrosis and calcification (dystrophic cardiac calcinosis) in mice. Physiol Genomics. 2001 Aug 28;6(3):137-44
• All: 1 reference(s)