The clinical-chemical screen in the Munich ENU Mouse Mutagenesis Project: screening for clinically relevant phenotypes

Citation
B. Rathkolb et al., The clinical-chemical screen in the Munich ENU Mouse Mutagenesis Project: screening for clinically relevant phenotypes, MAMM GENOME, 11(7), 2000, pp. 543-546
Citations number
14
Categorie Soggetti
Molecular Biology & Genetics
Journal title
MAMMALIAN GENOME
ISSN journal
09388990 → ACNP
Volume
11
Issue
7
Year of publication
2000
Pages
543 - 546
Database
ISI
SICI code
0938-8990(200007)11:7<543:TCSITM>2.0.ZU;2-P
Abstract
The Munich ENU Mouse Mutagenesis Project within the German Human Genome Pro ject is a phenotype-driven approach to produce, identify, and characterize new mouse mutants (Hrabe de Angelis and Balling 1998). The focus of the cli nical-chemical screen is on laboratory diagnostic procedures (mainly blood- based) suitable to detect hematological changes, defects of various organ s ystems, and changes in metabolic pathways and electrolyte homeostasis. The methods used are appropriate routine procedures, allowing the screening of large numbers of mice for a broad spectrum of clinical-chemical and hematol ogical parameters. Since most inherited metabolic disorders in humans are k nown to lead directly or indirectly via altered organ function to changes i n the parameters investigated (Fernandes et al. 1995; Saudubray and Charpen tier 1995), this screen provides a comprehensive investigation of clinical phenotypes with known counterparts in humans.