Ontology highlight
ABSTRACT:
SUBMITTER: Ramamurthy V
PROVIDER: S-EPMC518850 | biostudies-other | 2004 Sep
REPOSITORIES: biostudies-other
Proceedings of the National Academy of Sciences of the United States of America 20040913 38
Leber congenital amaurosis (LCA4) has been linked to mutations in the photoreceptor-specific gene Aryl hydrocarbon interacting protein like 1 (Aipl1). To investigate the essential role of AIPL1 in retina, we generated a mouse model of LCA by inactivating the Aipl1 gene. In Aipl1(-/-) retinas, the outer nuclear layer develops normally, but rods and cones then quickly degenerate. Aipl1(-/-) mice have highly disorganized, short, fragmented photoreceptor outer segments and lack both rod and cone ele ...[more]