Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The RLC is a new mouse model of hereditary cataract. In this mutant, opacity of lens developed spontaneously at 35-60 days of age. The initial histological change was irregular swelling, condensation, degeneration and fragmentation of lens fibers in the deep cortex, leading to rupture of the lens capsule at the posterior pole at 45-100 days of age. Following rupture, the lens nucleus dislocated behind the lens or occasionally in the anterior chamber. Both eyes were affected. Genetic analysis indicated that the mutation was dictated by a single autosomal recessive gene with complete penetrance. Homozygotes of either sex developed cataract with rupture of lens capsule. We named the responsible gene as rupture of lens cataract (rlc) and the mouse strain as RLC. Neither allelism nor linkage was found between rlc and nct, another recessive gene in Nakano cataract mice. The rlc mutation is now fixed in a inbred background since the RLC has been maintained over 20 inbred generations in the laboratory. Although no direct homologous disease of this unusual cataract is found in human, this mutant will provide a valuable tool to investigate the mechanism involved in maintainance of lens.
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PMID:Rupture of lens cataract: a novel hereditary recessive cataract model in the mouse. 909 26