Ptnu1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Ptnu1^C57BL/6J
• Name: proteinuria 1; C57BL/6J
• MGI ID: MGI:3583633
• QTL: Ptnu1 Location: unknown Genetic Position: Chr8, cM position of peak correlated region/allele: 22.16 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL

Notes

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

J:99319

Linkage analysis was performed on 356 animals from a (FGS/Kist x C57BL/6J)F1 x FGS/Kist backcross to identify QTL associated with glomerulosclerosis. Parental strain FGS/Kist is a mouse model for focal glomerulosclerosis. FGS/Kist displays weight loss and high proteinuria at 4-5 months of age and death within 1 month of onset of wasting. Parental strain C57BL/6J does not exhibit these traits. 71 polymorphic markers at an average spacing of 15.3 cM were used in the genome scan. Animals were phenotyped at different time points ranging from 6 weeks to 28 weeks of age, and proteinuria was used as a measurement of focal glomerulosclerosis.

Significant linkage to proteinuria mapped to 21 cM on mouse Chromosome 8 near D8Mit190 (max LOD=5.5). This locus is named Ptnu1 (proteinuria 1). Ptnu1 is associated with proteinuria starting at 10 weeks of age until 28 weeks of age. FGS/Kist-derived alleles at Ptnu1 confer high proteinuria levels. A potential candidate gene for Ptnu1 is Nek1 (32 cM). Ptnu1 shows epistatic interaction with Ptnu2 on mouse Chromosome 17. Homozygosity for FGS/Kist-derived alleles at both Ptnu1 and Ptnu2 confer significantly increased proteinuria levels at 20 and 24 weeks of age.

Significant linkage to proteinuria mapped to 15 cM on mouse Chromosome 17 near D17Mit46(max LOD=6.1). This locus is named Ptnu2 (proteinuria 2). Ptnu2 is associated with proteinuria starting at 10 weeks of age until 12 weeks of age. FGS/Kist-derived alleles at Ptnu2 confer high proteinuria levels. A potential candidate gene for Ptnu2 is Cd2ap. Epistatic interaction was detected between Ptnu2 and a locus on mouse Chromosome 9 named Ptnu3 at D9Mit162. Homozygosity for FGS/Kist-derived alleles at both Ptnu2 and Ptnu3 confer significantly increased proteinuria levels at 16 weeks of age.

Epistatic interaction was detected between 2 loci on mouse Chromosome 15 named Ptnu4 near D15Mit90 (36 cM) and Ptnu5 near D15Mit70 (47.7 cM). Homozygosity for FGS/Kist-derived alleles at Ptnu4 and heterozygosity for FGS/Kist- and C57BL/6J-derived alleles at Ptnu5 confer significantly increased proteinuria levels at 16 weeks. A potential candidate gene for Ptnu5 is Pdgfb (46.8 cM).

References

• Original: J:99319 Kim EH, et al., Quantitative trait loci for proteinuria in the focal glomerulosclerosis mouse model. Mamm Genome. 2005 Apr;16(4):242-50
• All: 1 reference(s)