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Retinal Degeneration slow(rds) in Mouse Results from Simple Insertion of atHaplotype-Specific Element into Protein-Coding Exon II

Authors
Journal
Genomics
0888-7543
Publisher
Elsevier
Publication Date
Volume
28
Issue
2
Identifiers
DOI: 10.1006/geno.1995.1133
Disciplines
  • Biology

Abstract

Abstract Retinal degeneration slow ( rds) is a semidominant mutation of mice that causes dysplasia and degeneration of rod and cone photoreceptors. Mutations in RDS, the human ortholog of the rds gene, are responsible for several inherited retinal dystrophies including a subset of retinitis pigmentosa. The normal rds locus encodes rds/peripherin, an integral membrane glycoprotein present in outer segment discs. Genomic libraries from wildtype and rds/rds mice were screened with an rds cDNA, and phage λ clones that span the normal and mutant loci were mapped. We show that in mice, rds is caused by the insertion into exon II of a 9.2-kb repetitive genomic element that is very similar to the t haplotype-specific element in the H-2 complex. The entire element is included in the RNA products of the mutant locus. We present evidence that rds in mice represents a null allele.

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