Knockout of the intermediate filament protein CP49 destabilises the lens fibre cell cytoskeleton and decreases lens optical quality, but does not induce cataract.
In this report, the phenotype associated with the first targeted knockout of the lens specific intermediate filament gene CP49 is described. Several surprising observations have been made. The first was that no cataract was observed despite the fact that the beaded filaments of the lens fibre cells had been disrupted. Light scatter and the lens optical properties had, however, deteriorated in the CP49 knockout lenses compared to litter mate controls. These changes were accompanied by dramatic changes in plasma membrane organisation of the fibre cells as revealed by detailed morphological examinations and providing the second surprising result. The CP49 knockout mouse is therefore an important model to study the functional link between lens transparency, the cytoskeleton and plasma membrane organisation.
Sandilands
Aileen
A
Department of Molecular and Cellular Pathology, Ninewells Medical School, University of Dundee, Dundee DD1 5EH, UK.
Prescott
Alan R
AR
Wegener
Alfred
A
Zoltoski
Rebecca K
RK
Hutcheson
Aileen M
AM
Masaki
Shigeo
S
Kuszak
Jer R
JR
Quinlan
Roy A
RA
D000818:Animals; D002386:Cataract / Q000235:genetics*; D003599:Cytoskeleton / Q000648:ultrastructure*; D004195:Disease Models, Animal; D005136:Eye Proteins / Q000235:genetics / Q000502:physiology*; D007381:Intermediate Filament Proteins / Q000235:genetics / Q000502:physiology*; D007908:Lens, Crystalline / Q000378:metabolism / Q000648:ultrastructure*; D051379:Mice; D018345:Mice, Knockout; D055095:Optics and Photonics; D012542:Scattering, Radiation
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; C084808:phakinin