Pbat1^BXSB/Slc
QTL Variant Detail

Summary

• QTL variant: Pbat1^BXSB/Slc
• Name: platelet-binding antibody-associated thrombocytopenia 1; BXSB/Slc
• MGI ID: MGI:3625691
• QTL: Pbat1 Location: unknown Genetic Position: Chr17, cM position of peak correlated region/allele: 17.98 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: BXSB/Slc

Variant description

• Allele Type: QTL
• Mutation: Undefined
• Mutation details: This allele confers increased platelet-binding IgG production and increased thrombocytopenia compared to NZW/Slc. (J:49899)
• Inheritance: Dominant

Notes

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

J:49899

Linkage analysis was performed on 127 male animals from a NZW/Slc x (NZW/Slc x BXSB/Slc)F1 backcross to identify QTL associated with systemic lupus erythematosus (SLE) traits, such as anticardiolipin antibody production, platelet-binding autoantibody production, thrombocytopenia, and myocardial infarction. 108 polymorphic markers were used for the genome scan. Male F1 animals carrying the BXSB-derived Yaa locus exhibit significantly elevated anticardiolipin antibodies and an increased frequency of myocardial infarction, and serve as a mouse model of human SLE-associated antiphospholipid syndrome.

Linkage to platelet-binding IgG antibodies and thrombocytopenia mapped to 17.4 cM on mouse Chromosome 17 near D17Mit16 (close to the H2 locus) and 11 cM on mouse Chromosome 8 near D8Mit96. These loci are designated Pbat1 (platelet-binding antibody-associated thrombocytopenia 1) and Pbat2, respectively. BXSB/Slc-derived alleles at Pbat1 and Pbat2 confer increased platelet binding IgG production and increased thrombocytopenia with a dominant mode of inheritance. Potential candidate genes mapping near Pbat2 include Scat (5 cM) and Plat (9 cM).

Linkage to anti-cardiolipin antibody production mapped to 17.4 cM on mouse Chromosome 17 near D17Mit16 and 44.5 cM on mouse Chromosome 4 near D4Mit9. These loci are designated Acla1 (anticardiolipin antibody 1) and Acla2, respectively. BSXB/Slc-derived alleles at Acla1 and Acla2 confer increased anti-cardiolipin antibody production with a dominant mode of inheritance. Ifna(42.6 cM) and Ifnb1 (42.6 cM) are potentialcandidate genes for Acla2. Previously identified QTLs Imh1 (66 cM) and Mott1 (66 cM) map near Acla2.

Linkage to myocardial infarction mapped to 69 cM on mouse Chromosome 7 near D7Mit14 and 39 cM on mouse Chromosome 14 near D14Mit68. These loci are designated Myci1 (myocardial infarction 1) and Myci2, respectively. BXSB-derived alleles at Myci1 and Myci2 confer increased incidence of myocardial infarction with a dominant mode of inheritance. A potential candidate genes for Myci1 is Il4r (62 cM) and a potential candidate gene for Myci2 is amd (30.5 cM).

References

• Original: J:49899 Ida A, et al., Multigenic control of lupus-associated antiphospholipid syndrome in a model of (NZW x BXSB) F1 mice. Eur J Immunol. 1998 Sep;28(9):2694-703
• All: 1 reference(s)