International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


Coghill EL
MRC Harwell

Co-Authors: 1) Brown SDM, 2) Thaung C, 3) Meziane H, 3) Romand R, 4) Picaud S, 5) Hart A, 5) Cross S, 5) Jackson I
Institutions: 1) MRC Harwell, 2) Royal Eye Hospital Manchester, 3) IGBMC Strasbourg, 4) INSERM Paris 5) MRC HGU Edinburgh

The completion of the human genome sequence highlights the need to determine the function of each of the ~35000 human genes and their role in disease. This will be greatly assisted by the development and characterisation of mouse models of human disease. Comprehensively assessing the phenotypic consequences of any change made in a gene will require systematic screens.

The initial aim of the EU supported EUMORPHIA programme is to develop and disseminate a standardized European Comprehensive First-line Phenotyping protocol (ECFLP) for all body systems in the mouse. The sensory systems workpackage within the EUMORPHIA programme covers the study of audition, vestibular function, vision, olfaction and taste.

Two levels of first-line phenotyping have been defined; primary screens represent the routine tests making up the core of any robust first-line screen; primary extended tests are those valuable in a first-line screen, but dependent upon a variety of circumstances – such as availability of facilities, equipment, skills and resources. The tests to be included within the ECFLP have been chosen and refinement and validation using control mutant lines and specific inbred lines is underway.

Secondary screens will involve the development of new approaches in phenotyping, mutagenesis and informatics leading to improved dissemination and querying of mouse model characteristics. Within this workpackage this involves developing; OAE protocols, the use of MRI for morphological screening of the ear, aspects of a behavioural ontology, ERG and optokinetic drum protocols and a non invasive intraocular pressure technique. Progress within the sensory systems workpackage including ECFLP developments is described.

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