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Publication : The murine cataractogenic mutation, Cat Fraser, segregates independently of the gamma crystallin genes.

First Author  Rupert JL Year  1988
Journal  Genet Res Volume  51
Issue  1 Pages  23-8
PubMed ID  3366376 Mgi Jnum  J:267101
Mgi Id  MGI:6258910 Doi  10.1017/s0016672300023909
Citation  Rupert JL, et al. (1988) The murine cataractogenic mutation, Cat Fraser, segregates independently of the gamma crystallin genes. Genet Res Camb 51:23-28
abstractText  The murine mutation, Cat Fraser (CatFr), causes dominantly inherited ocular cataracts. Lenses of adult mice bearing this mutation contain reduced amounts of all seven gamma-crystallin proteins and their corresponding transcripts. Levels of other lens proteins and transcripts appear normal and no extra-ocular effects of the mutation have been observed. The selective effect of this mutation on the gamma-crystallins is consistent with the possibility that the site at which it occurs is involved in the coordinated regulation of the family of genes which encodes them. We have shown that several restriction fragment length polymorphisms in the gamma-crystallin genes segregate independently of the CatFr mutation. Therefore, despite its selective effect on the expression of the gamma-crystallin genes, the mutation is not linked to them. This observation rules out the possibility that the mutation is in a cis-acting regulatory site.
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