UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Novel phenotypes identified by plasma biochemical screening in the mouse

Hough, TA; Nolan, PM; Tsipouri, V; Toye, AA; Gray, IC; Goldsworthy, M; Moir, L; ... Hunter, AJ; + view all (2002) Novel phenotypes identified by plasma biochemical screening in the mouse. MAMM GENOME , 13 (10) 595 - 602. 10.1007/s00335-002-2188-1.

Full text not available from this repository.

Abstract

We used ENU mutagenesis in the mouse for the rapid generation of novel mutant phenotypes for both gene function studies and use as new animal models of human disease (Nolan et al. 2000b). One focus of the program was the development of a blood biochemistry screen. At 8-12 weeks of age, approximately 300 mul of blood was collected from F-1 offspring of ENU mutagenized male mice. This yielded approximately 125 mul of plasma, used to perform a profile of 17 standard biochemical tests on an Olympus analyzer. Cohorts of F, mice were also aged and then retested to detect late onset phenotypes. In total, 1,961 F(1)s were screened. Outliers were identified by running means and standard deviations. Of 70 mice showing consistent abnormalities in plasma biochemistry, 29 were entered into inheritance testing. Of these, 9 phenotypes were confirmed as inherited, 10 found not to be inherited, and 10 are still being tested. Inherited mutant phenotypes include abnormal lipid profiles (low total and HDL cholesterol, high triglycerides); abnormalities in bone and liver metabolism (low ALP, high ALP, high ALT, and AST); abnormal plasma electrolyte levels (high sodium and chloride); as well as phenotypes of interest for the study of diabetes (high glucose). The gene loci bearing the mutations are currently being mapped and further characterized. Our results have validated our biochemical screen, which is applicable to other mutagenesis projects, and we have produced a new set of mutants with defined metabolic phenotypes.

Type: Article
Title: Novel phenotypes identified by plasma biochemical screening in the mouse
DOI: 10.1007/s00335-002-2188-1
Keywords: ENZYME-ACTIVITY MUTANTS, SCALE ENU-MUTAGENESIS, DIABETES-MELLITUS, MUS-MUSCULUS, GENOME-WIDE, GENE, MUTATIONS, DISEASE, PROGRAM, MICE
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Neurodegenerative Diseases
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Epidemiology and Health Care
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Epidemiology and Health Care > Primary Care and Population Health
URI: http://discovery.ucl.ac.uk/id/eprint/126647
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item