Article
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
PLoS genetics - 1 Aug 2013
Miller Kerry A, Ah-Cann Casey J, Welfare Megan F, Tan Tiong Y, Pope Kate, Caruana Georgina, Freckmann Mary-Louise, Savarirayan Ravi, Bertram John F, Dobbie Michael S, Bateman John F, Farlie Peter G
Abstract excerpt
Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis. There are two broad categories of cilia; motile and non-motile, or primary, cilia. The central role of primary cilia in health and disease has become prominent in the past decade with the recognition of a number of...
Topics
- Animals
- Carrier Proteins
- Cell Communication
- Cell Polarity
- Cilia
- Disease Models, Animal
- Ellis-Van Creveld Syndrome
- Embryonic Development
- Hedgehog Proteins
- Humans