Renf2^129X1/SvJ
QTL Variant Detail

Summary

• QTL variant: Renf2^129X1/SvJ
• Name: renal failure 2; 129X1/SvJ
• MGI ID: MGI:2429592
• QTL: Renf2 Location: Chr16:87380252-87380520 bp Genetic Position: Chr16, cM position of peak correlated region/allele: 49.62 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: 129X1/SvJ

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers accelerated onset of end stage renal failure compared to C57BL/6J. (J:74499)

Notes

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

J:74499

The Col4a3^tm1Jhm mutation (the mouse model of Alport syndrome) was crossed onto a 129X1/SvJ background and a C57BL/6J background for 6 and 7 generations, respectively. This resulted in mutant lines composed of >98% 129X1/SvJ and >99% C57BL/6J background genetic material. The rate of end-stage renal failure (ESRF) progressed much more quickly in mutant animals on a 129X1/SvJ background (2 months) compared to mutant animals on a C57BL/6J background (> 6 months). Loci responsible for this difference in renal failure progression were mapped in a F1 x C57BL/6J backcross using markers spaced approximately 20 cM apart. Renf1 mapped to mouse Chromosome 9 at approximately 43 cM with a LOD score of 3.26 between D9Mit4 and D9Mit12, and Renf2 mapped to mouse Chromosome 16 at approximately 57 cM with a LOD score of 3.1 at D16Mit153.

References

• Original: J:74499 Andrews KL, et al., Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome. Am J Pathol. 2002 Feb;160(2):721-30
• All: 1 reference(s)