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

Examination of mouse strains with a slit lamp and indirect ophthalmoscopy revealed that strain CBA/CaGnLe has a white cataract obvious at weaning age. It soon progresses to a large white nuclear cataract with mild cortical changes. Crosses with C57BL/6J showed that this is inherited as a single recessive fully penetrant gene, which we have designated lop18 (lens opacity 18). Linkage analysis using visible marker T (brachyury), histocompatibility marker H2, and microsatellite markers D17Mit21, D17Mit28, D17Mit38, and D17Mit46 shows that the lop18 gene is located, approximately 16 cM from the centromere on mouse Chromosome 17. It is a likely candidate mutation for the alpha-crystallin (Crya1) gene.
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PMID:Chromosomal localization of a new mouse lens opacity gene (lop18) 881 30