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
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.