Mopkd2^CAST/EiJ
QTL Variant Detail

Summary

• QTL variant: Mopkd2^CAST/EiJ
• Name: modifier of polycystic kidney disease progression 2; CAST/EiJ
• MGI ID: MGI:2429585
• Synonyms: MOP2^cast
• QTL: Mopkd2 Location: Chr16:21646314-21646414 bp Genetic Position: Chr16, cM position of peak correlated region/allele: 12.89 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: CAST/EiJ

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers severe polycystic kidney disease in the homozygous state compared to DBA/2. (J:44580)
• Inheritance: Other (see notes)

Notes

Mopkd1 exhibits additive interaction with Mopkd2. The phenotype of animals heterozygous at Mopkd2 depends on Mopdk1 status.

Animals homozygous for CAST/Ei-derived alleles at Mopkd2 exhibit severe polycystic kidney disease when the genotype at Mopkd1 is not homozygous Mopkd1^CAST/Ei.

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

J:44580

Genome scan was performed on 114 (DBA/2 x CAST/Ei)F2-pcy/pcy animals using 150 microsatellite markers at an average spacing of 10 cM to identify QTLs affecting progression of polycystic kidney disease (PKD). (DBA/2-pcy/pcy was crossed to CAST/Ei to generate pcy/pcy F2 animals.) Animals were phenotyped at 6 weeks of age for left kidney/body weight ratios. The pcy recessive mutation on mouse Chromosome 9 results in PKD by 8 weeks of age and death by 25 weeks of age (in the homozygous state) on a DBA/2 background. Interacting loci affecting PKD progression were identified on mouse Chromosome 4 (Mopkd1) and mouse Chromosome 16 (Mopkd2). Mopkd1 spans 12.1 cM - 42.5 cM on mouse Chromosome 4 with a peak LOD score of 10.3 at D4Mit111. Mopkd2 spans 9.7 cM - 28.5 cM on mouse Chromosome 16 with a LOD score of 13.8 at D16Mit1. DBA/2-derived alleles and CAST-derived alleles at Mopkd1 and Mopkd2 interact in an additive fashion to influence PKD progression in (DBA/2 x CAST/Ei)F2-pcy/pcy animals.

References

• Original: J:44580 Woo DD, et al., Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice. J Clin Invest. 1997 Oct 15;100(8):1934-40
• All: 1 reference(s)