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Mopkd2CAST/EiJ
QTL Variant Detail
Summary
QTL variant: Mopkd2CAST/EiJ
Name: modifier of polycystic kidney disease progression 2; CAST/EiJ
MGI ID: MGI:2429585
Synonyms: MOP2cast
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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 Mopkd1CAST/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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory