WORKPACKAGE 1

Thorough analysis of animal models with mutant BBS, OFD1, or NPHP proteins

OBJECTIVES
Taking advantage of the diverse animal models generated within this consortium, we will perform a comparative analysis of the phenotypes causes by deletion of BBS, OFD1, and NPHP proteins in mice, Xenopus and zebrafish. This WP will deliver a comprehensive list of phenotypes that are shared between divergent animal species.

LIST OF PARTICIPANTS

1	FTELE.IGM	Brunella Franco
2	UCL	Philip Beales
3	UKLFR	Gerd Walz, Heymut Omran
4	CMNS	Alberto Luini

LIST OF DELIVERABLES
1.1 Generation of animal models for OFD1, BBS, NPHP in Xenopus and zebrafish. (Month 18).
1.2 Generation of animal models for BBS and NPHP in mice with kidney specific inactivation. (Month 20).
1.3 Localization of BBS, OFD1, NPHP in different animal models. (Month 30).
1.4 Characterization and comprehensive registry of mutant phenotypes that will be made available to the scientific community (via a public website) in mice, Xenopus, and zebrafish. (Month 36).

LIST OF MILESTONES
M1.1 Generation of animal models in Xenopus and zebrafish. (Month 18).
M1.2 Generation of conditional murine models with kidney inactivation for Bbs1, Bbs4, Nphp3. (Month 20).
M1.3 Characterization of mutant phenotypes that will be made available to the scientific community in mice, Xenopus and zebrafish. (Month 36).