Ontology highlight
ABSTRACT:
SUBMITTER: Lockhart CM
PROVIDER: S-EPMC4160072 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Lockhart Catherine M CM Nakano Mariko M Rettie Allan E AE Kelly Edward J EJ
Investigative ophthalmology & visual science 20140812 9
<h4>Purpose</h4>Bietti crystalline dystrophy (BCD) is a rare, autosomal recessive, progressive, degenerative eye disease caused by mutations in the CYP4V2 gene, for which no treatments are currently available. Cyp4v3 is the murine ortholog to CYP4V2, and to better understand the molecular pathogenesis of this disease we have established a Cyp4v3-null mouse line.<h4>Methods</h4>Cyp4v3(-/-) mice were generated by homologous recombination in embryonic stem cells. Ocular morphologic characteristics ...[more]