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Graw, J. ; Jung, M.* ; Löster, J. ; Klopp, N. ; Soewarto, D. ; Fella, C. ; Fuchs, H. ; Reis, A.* ; Wolf, E.* ; Balling, R. ; Hrabě de Angelis, M.

Mutation in the ßA3/A1-Crystallin Encoding Gene Cryba1 Causes a Dominant Cataract in the Mouse.

Genomics 62, 67-73 (1999)

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During the mouse ENU mutagenesis screen, mice were tested for the occurrence of dominant cataracts. One particular mutant was discovered as a progressive opacity (Po). Heterozygotes show opacification of a superficial layer of the fetal nucleus, which progresses and finally forms a nuclear opacity. Since the homozygotes have already developed the total cataract at eye opening, the mode of inheritance is semidominant. Linkage analysis was performed using a set of genome-wide microsatellite markers. The mutation was mapped to chromosome 11 distal of the marker D11Mit242 (9.3 ± 4.4 cM) and proximal to D11Mit36 (2.3 ± 2.3 cM). This position makes the βA3/A1-crystallin encoding gene Cryba1 an excellent candidate gene. Mouse Cryba1 was amplified from lens mRNA. Sequence analysis revealed a mutation of a T to an A at the second base of exon 6, leading to an exchange of Trp by Arg. Computer analysis predicts that the fourth Greek key motif of the affected βA3/A1-crystallin will not be formed. Moreover, the mutation leads also to an additional splicing signal, to the skipping of the first 3 bp of exon 6, and finally to the deletion of the Trp residue. Both types of mRNA are present in the homozygous mutant lenses. The mutation will be referred to as Cryba1^po1. This particular mouse mutation provides an excellent animal model for a human congenital zonular cataract with suture opacities, which is caused by a mutation in the homologous gene.

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