Gsi1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Gsi1^C57BL/6J
• Name: glomerulsclerosis index 1; C57BL/6J
• MGI ID: MGI:3589624
• QTL: Gsi1 Location: unknown Genetic Position: Chr8, cM position of peak correlated region/allele: 32.3 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:100490

Linkage analysis was performed on 183 male animals from a (FGS/Kist x C57BL/6J)F1 x FGS/Kist backcross to identify QTL associated with focal glomerulosclerosis phenotypes. Animals were sacrificed and evaluated at 28 weeks of age. 71 polymorphic markers were used for the genome scan. Parental strain FGS/Kist is a mouse model for human focal glomerulosclerosis and exhibits high proteinuria, elevated plasma carnitine and blood urea nitrogen, glomerulosclerosis, and tubular atrophy with intersitital nephritis. The body weight of FGS/Kist animals is similar to that of C57BL/6J animals, but kidney weight and relative kidney weight in FGS/Kist is significantly lower than C57BL/6J.

Linkage to glomerulosclerosis mapped to 32 cM on mouse Chromosome 8 near D8Mit25 (LOD=4.1). This locus, Gsi1 (glomerulosclerosis index 1), explains 8% of the variance. The 1-LOD support interval for Gsi1 spans 28 cM in length. FGS/Kist-derived alleles at Gsi1 confer increased glomerulosclerosis index. The Gsi1 locus overlaps with a previously identified proteinuria QTL named Ptnu1 (21 cM). Potential candidate genes for Gsi1 include Mmp2 (44 cM) and Mmp15 (45.5 cM). Gsi1 is syntenic to regions on human Chromosome 19p13 and 4q28-q31.

Linkage to glomerulosclerosis mapped to 64 cM on mouse Chromosome 10 near D10Mit180 (LOD=2.8). This locus, Gsi2 (glomerulosclerosis index 2), explains 5% of the variance. The 1-LOD support interval for Gsi2 spans 32 cM in length. FGS/Kist-derived alleles at Gsi2 confer decreased glomerulosclerosis index.Gsi2 maps near a previously identified cystic kidney modifier named Jckm1 (35 cM) and is sytenic to a region on human Chromosome 12q14.

Linkage to kidney weight QTL mapped to 53 cM on mouse Chromosome 19 near D19Mit34 (LOD=3.4). This locus, Kdw1 (kidney weight 1), explains 8% of the variance. The 1-LOD support interval for Kdw1 spans 12 cM in length. FGS/Kist-derived alleles at Kdw1 confer decreased kidney weight. A potential candidate gene for Kdw1 is Mxi1 at 49.5 cM.

Linkage to body weight QTL mapped to 9 cM on mouse Chromosome 13 near D13Mit218 (LOD=2.6). This locus, Bdw1 (body weight 1), explains 5% of the variance. The 1-LOD support interval for Bdw1 spans 20 cM in length. FGS/Kist-derived alleles at Bdw1 confer decreased body weight.

References

• Original: J:100490 Kim EH, et al., Quantitative trait Loci for glomerulosclerosis, kidney weight and body weight in the focal glomerulosclerosis mouse model. Exp Anim. 2005 Jul;54(4):319-25
• All: 1 reference(s)