Article
A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfi mice.
Genomics - 15 Jun 2001
Sidjanin D J, Parker-Wilson D M, Neuhäuser-Klaus A, Pretsch W, Favor J, Deen P M, Ohtaka-Maruyama C, Lu Y, Bragin A, Skach W R, Chepelinsky A B, Grimes P A, Stambolian D E
Abstract excerpt
Hfi is a dominant cataract mutation where heterozygotes show hydropic lens fibers and homozygotes show total lens opacity. The Hfi locus was mapped to the distal part of mouse chromosome 10 close to the major intrinsic protein (Mip), which is expressed only in cell membranes of lens fibers. Molecular analysis of Mip revealed a 76-bp deletion that resulted in exon 2 skipping in Mip mRNA. In Hfi/Hfi this deletion...
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