C04916: Line 1: Pkhd1flox3-4 mouse line, formal name Pkhd1tm1Ggg.; Pkhd1del3-4 mouse line, formal name Pkhd1tm1Ggg.1
Technical Details:
Pkhd1flox3-4, when mutated, causes human autosomal recessive polycystic kidney disease (ARPKD). The Pkhdlde13-4 allele results after Cre-mediated deletion of exons 3 and 4. Homozygosity for this allele results in a wide range of abnormal phenotypes including ductal plate malformations of the liver, pancreatic cysts, respiratory distress, growth retardation, kidney cysts, and occasional vascular hemorrhages. Heterozygosity for this allele results in morbid obesity. Other studies in humans showed that obesity is a genetic trait which is linked to SNPs at the human PKHDl locus.
Looking for Partners:
Overweight and obese individuals make up approximately 60% of the US population. By some estimates, obesity has now surpassed cigarette smoking as the most important preventable behavioral threat to health. The mouse model created by Germino and colleagues will be an invaluable tool for studying common forms of obesity and may lead to the discovery of prediction markers and the development of drugs to help prevent or treat the condition.
Associated Publications:
Hum Mol Genet. 2007 Aug 15; 16(16): 1940–1950
