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Publication : Phenotypic variations of orpk mutation and chromosomal localization of modifiers influencing kidney phenotype.

First Author  Sommardahl C Year  2001
Journal  Physiol Genomics Volume  7
Issue  2 Pages  127-34
PubMed ID  11773599 Mgi Jnum  J:73583
Mgi Id  MGI:2155922 Doi  10.1152/physiolgenomics.00089.2001
Citation  Sommardahl C, et al. (2001) Phenotypic variations of orpk mutation and chromosomal localization of modifiers influencing kidney phenotype. Physiol Genomics 7(2):127-34
abstractText  The Oak Ridge polycystic kidney (orpk) mutant mouse model resulted from a transgene insertion into the Tg737 gene and exhibits a pleiotropic syndrome with lesions in the kidney, liver, and pancreas. We found marked differences in the phenotypic expression of the orpk mutation when bred on different genetic backgrounds. In the FVB/N background, the phenotype is very severe for kidney, pancreas, and liver lesions. To evaluate better how genetic background might influence the expressivity of the orpk phenotype, we bred the transgene into the C3HeB/FeJLe (C3H) genetic background. We performed a genome-wide scan using backcross and intercross populations with more than 150 markers to map the chromosomal location of the modifier genes that differ in the FVB/N and C3H genetic backgrounds that affect the severity of kidney disease in the orpk mouse. Low-resolution interval mapping was performed using the Map Manager QTb program, with the interval explaining a significant portion of the variance being the distal end of chromosome 4.
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