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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.
Pubmed ID: 25118264
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Center that produces knockout mice and carries out high-throughput phenotyping of each line in order to determine function of every gene in mouse genome. These mice will be preserved in repositories and made available to scientific community representing valuable resource for basic scientific research as well as generating new models for human diseases.
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