Elsevier

Genomics

Volume 42, Issue 3, 15 June 1997, Pages 393-396
Genomics

Regular Article
A New Dominant Retinal Degeneration (Rd4) Associated with a Chromosomal Inversion in the Mouse,☆☆

https://doi.org/10.1006/geno.1997.4717Get rights and content

Abstract

An autosomal dominant retinal degeneration, calledRd4,was found in a stock carrying the inversion In(4)56Rk, which was induced in a DBA/2J male. The inversion encompasses nearly all of Chromosome 4. It is homozygous lethal and in heterozygotes is always associated with retinal degeneration. In affected mice, the retinal outer nuclear and plexiform layers begin to reduce at 10 days of age, showing total loss at 6 weeks. The recordable electroretinograms (ERG) showed poorly at 3 to 6 weeks and were barely detected after 6 weeks of age. Retinal vessel attenuation, pigment spots, and optic atrophy appeared in the fundus at 4 weeks of age.Rd4has not recombined with the inversion in an outcross, suggesting that theRd4locus is located very close to or is disrupted by one of the breakpoints of the inversion, either near the centromere or near the telomere. A human homolog would be expected to be located on human chromosomes 1p or 8q.

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    Rd4 mice have a null mutation in rod transducin (Kitamura et al., 2006), whereas rd1 mice suffer from a null mutation in rod phosphodiesterase (Bowes et al., 1990). The rods and cones degenerate soon after birth in both of these mouse strains, leading to complete blindness by 6 weeks of age (Roderick et al., 1997; Sancho-Pelluz et al., 2008). As expected, untreated retinas from 3- to 6-month-old rd4 mice did not generate a light response, but DENAQ treatment did confer robust light responses (n = 6 retinas; p < 0.001, rank sum test) (Figure 4D), just like in the rd1 retina.

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Mapping data in this paper have been submitted to the Mouse Genome Database under Accession Nos. MGD-CREX-621, 622, 623, and 624.

☆☆

F. J. deSerresW. Sheridan, Eds.

1

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