GeneSet Information

Tier II GS136288 • modifier of polycystic kidney disease progression 2 (Mopkd2, Published QTL Chr 16)

DESCRIPTION:

QTL associated with modifier of polycystic kidney disease progression 2. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (21827637)

LABEL:

QTL-Mopkd2-Mouse-Chr 16

SCORE TYPE:

Binary

DATE ADDED:

2012-04-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Woo DD, Nguyen DK, Khatibi N, Olsen P

TITLE:

Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice.

JOURNAL:

The Journal of clinical investigation Oct 1997, Vol 100, pp. 1934-40

ABSTRACT:

Unlike the uniform disease progression in inbred animals, polycystic kidney disease (PKD) progression within human families can be highly variable. This may be due to environmental or genetic factors or both. To determine if PKD severity can be influenced by modifier genes, we carried out an intercross between DBA/2-pcy/pcy and Mus m. castaneous involving 3,105 6-wk-old F2 mice. Large differences in PKD severity were observed in this cross. In addition, 23/ 800 phenotypically normal mice were pcy/pcy genotypically. These results demonstrated that PKD progression in pcy/ pcy mice is a quantitative trait that is strongly modulated by modifier genes. Whole genome quantitative trait loci mapping of 114 selected pcy/pcy mice (68 with the mild PKD and 46 with severe PKD) identified two loci, MOP1 and MOP2 that strongly modulate PKD progression. MOP1 (max LOD score = 10.3 at D4Mit111) and MOP2 (max LOD score = 13.8 at D16Mit1) accounted for 36.7 and 46.8% of the phenotypic variance, respectively. Two-factor ANOVA of the phenotypes and genotypes of all 673 pcy/pcy mice from our cross indicated that MOP1 and MOP2 alleles regulate PKD progression in a complex additive manner. Characterization of these novel modifying loci may provide additional insights into the pathogenesis of polycystic kidney diseases. PUBMED: 9329956
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Annotation Information

No sequence read archive data associated with this GeneSet.


Alleles (D000483)
Animals (D000818)
Quantitative Trait Loci (D040641)
Kidney Diseases (D007674)
Genotype (D005838)
Polycystic Kidney Diseases (D007690)
Identification (Psychology) (D007062)
Lod Score (D008126)
Disease Progression (D018450)
Analysis of Variance (D000704)
polycystic kidney (MP:0008528)
pathogenesis (GO:0009405)

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