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Research Article

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

  • Kerry A. Miller,

    Affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia

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  • Casey J. Ah-Cann,

    Affiliations: Murdoch Childrens Research Institute, Parkville, Victoria, Australia, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia

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  • Megan F. Welfare,

    Affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia

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  • Tiong Y. Tan,

    Affiliations: Murdoch Childrens Research Institute, Parkville, Victoria, Australia, Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia

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  • Kate Pope,

    Affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia

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  • Georgina Caruana,

    Affiliation: Department of Anatomy and Developmental Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria, Australia

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  • Mary-Louise Freckmann,

    Affiliation: Sydney Children's Hospital, Randwick, New South Wales, Australia

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  • Ravi Savarirayan,

    Affiliation: Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia

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  • John F. Bertram,

    Affiliation: Department of Anatomy and Developmental Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria, Australia

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  • Michael S. Dobbie,

    Affiliation: The Australian Phenomics Facility, The Australian National University, Canberra, Australian Capital Territory, Australia

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  • John F. Bateman,

    Affiliations: Murdoch Childrens Research Institute, Parkville, Victoria, Australia, Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria, Australia

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  • Peter G. Farlie mail

    Peter.Farlie@mcri.edu.au

    Affiliations: Murdoch Childrens Research Institute, Parkville, Victoria, Australia, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia

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  • Published: August 29, 2013
  • DOI: 10.1371/journal.pgen.1003746

About the Authors

Kerry A. Miller, Casey J. Ah-Cann, Megan F. Welfare, Tiong Y. Tan, Kate Pope, John F. Bateman, Peter G. Farlie
Murdoch Childrens Research Institute, Parkville, Victoria, Australia
Casey J. Ah-Cann, Peter G. Farlie
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
Tiong Y. Tan, Ravi Savarirayan
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia
Georgina Caruana, John F. Bertram
Department of Anatomy and Developmental Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria, Australia
Mary-Louise Freckmann
Sydney Children's Hospital, Randwick, New South Wales, Australia
Michael S. Dobbie
The Australian Phenomics Facility, The Australian National University, Canberra, Australian Capital Territory, Australia
John F. Bateman
Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria, Australia

Corresponding Author

Email: Peter.Farlie@mcri.edu.au

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: KAM PGF. Performed the experiments: KAM CJA MFW KP PGF. Analyzed the data: KAM TYT MLF RS JFBa PGF. Contributed reagents/materials/analysis tools: GC MLF RS JFBe JFBa MSD. Wrote the paper: KAM PGF. Established the ENU screen from which the cauli mutant was derived: GC JFBe MSD.