Retinal dystrophy in the mouse: Histological and genetic aspects

Sorsby, Arnold; Koller, P. C.; Attfield, Muriel; Davey, J. B.; Lucas, Daniel

doi:10.1002/jez.1401250202

Cited by 81 publications

(17 citation statements)

References 6 publications

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“…A genetic mutation in the mouse (rd) results in degeneration of retinal photoreceptors, beginning about1 week after birth (Sorsby, Koller, Attfield, Davey & Lucas, 1954). At this time the rod photoreceptors begin a rapid degeneration and cones degenerate with a slower time course (CarterDawson, LaVail & Sidman, 1978).…”

Section: Sensitivity To Stimulus Irradiancementioning

confidence: 99%

Sensitivity and integration in a visual pathway for circadian entrainment in the hamster (Mesocricetus auratus).

Nelson

Takahashi

1991

The Journal of Physiology

293

173

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SUMMARY1. Light-induced phase shifts of the circadian rhythm of wheel-running activity were used to measure the photic sensitivity of a circadian pacemaker and the visual pathway that conveys light information to it in the golden hamster (Mesocricetus auratus). The sensitivity to stimulus irradiance and duration was assessed by measuring the magnitude of phase-shift responses to photic stimuli of different irradiance and duration. The visual sensitivity was also measured at three different phases of the circadian rhythm.2. The stimulus-response curves measured at different circadian phases suggest that the maximum phase-shift is the only aspect of visual responsivity to change as a function of the circadian day. The half-saturation constants (G.) for the stimulus-response curves are not significantly different over the three circadian phases tested. The photic sensitivity to irradiance (1/ao) appears to remain constant over the circadian day.3. The hamster circadian pacemaker and the photoreceptive system that subserves it are more sensitive to the irradiance of longer-duration stimuli than to irradiance of briefer stimuli. The system is maximally sensitive to the irradiance of stimuli of 300 s and longer in duration. A quantitative model is presented to explain the changes that occur in the stimulus-response curves as a function of photic stimulus duration.4. The threshold for photic stimulation of the hamster circadian pacemaker is also quite high. The threshold irradiance (the minimum irradiance necessary to induce statistically significant responses) is approximately 1011 photons cm-2 s-5 for optimal stimulus durations. This threshold is equivalent to a luminance at the cornea of 0-1 cdm2.5. We also measured the sensitivity of this visual pathway to the total number of photons in a stimulus. This system is maximally sensitive to photons in stimuli between 30 and 3600 s in duration. The maximum quantum efficiency of photic integration occurs in 300 s stimuli.6. These results suggest that the visual pathways that convey light information to t Present address:

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Section: Sensitivity To Stimulus Irradiancementioning

confidence: 99%

Sensitivity and integration in a visual pathway for circadian entrainment in the hamster (Mesocricetus auratus).

Nelson

Takahashi

1991

The Journal of Physiology

293

173

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“…The differences between normal and homozygous mutant retinas in the third postnatal week and thereafter were interpreted, based on the incomplete formulation of retinal histogenesis available at that time, as an arrest of development of the mutant retina at a normal stage that had been reached late in the first postnatal week. The crucial contribution of Tansley (12,13), Karli (15,16), and Sorsby et al (14), all studying progeny of albino mice that had been obtained from Bruckner (11), was to recognize that a severe and rapidly progressive degenerative process was superimposed on the partially differentiated photoreceptor cells during the third postnatal week. By about 21 days of age, retinas of the Bruckner-derived mice and all subsequent rd mice were histologically indistinguishable from those described earlier by Keeler, but, aware of the principle that similar phenotypes can result from different genotypes, they each interpreted the "Bruckner" disease to be different from Keeler's rodless retina, which was presumably based on a developmental arrest.…”

Section: Resultsmentioning

confidence: 99%

“…Descendants of Bruckner's mice were analyzed by Sorsby, Tansley, and their colleagues in London (12)(13)(14), by Karli in Strasbourg (15,16), and later by others (17)(18)(19), with a consensus that the essential pathological process was a degeneration of partially differentiated photoreceptor cells, rather than a developmental arrest, and therefore, that the disease was probably unrelated to Keeler's rodless retina. The gene later acquired the formal designation, retinal degeneration (gene symbol, rd).…”

mentioning

confidence: 99%

PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect.

Pittler

Keeler

Sidman

et al. 1993

Proc. Natl. Acad. Sci. U.S.A.

133

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Rodless retina (gene symbol, r) was discovered in mice by Keeler 70 years ago and was first described in this journal as an autosomal recessive mutation leading to "the absence of the visual cells (rods), the external nuclear layer, and the external molecular layer" [Keeler, C. E. (1924) Proc. Natl. Acad. Sci. USA 10, 329-333]. The mutation was studied by Keeler and others in the United States and Europe over the next decade, but Keeler's stock was destroyed in 1939, and mice dermitively related to his by pedigree and progeny tests also appeared to have been lost by the end of World War II. In the early 1950s Bruckner in Basel recognized mice with a similar retinal phenotype. Investigators in London and Strasbourg analyzed descendants of Bruckner's mice and concluded, on the basis of different pathogenesis from r, that they carried a new mutation, which came later to be called retinal degeneration, rd. The relationship of r and rd has been unsettled ever since. Now that the rd phenotype is known to be due to a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase 3-subunit gene, we hoped to settle the question by direct analysis of r DNA. DNA was liberated from 70-yearold histological sections of +/r and rlr eyes, the only extant r DNA, and the regions encompassing the nonsense mutation amplified by the polymerase chain reaction (PCR). Sequence analysis of the PCR products revealed the presence of the same nonsense mutation and two intron polymorphisms in r DNA. PCR and direct sequence analysis of 11 strains of mice known to carry rd (or a similar allele) also revealed the presence of the nonsense mutation and the same intron polymorphisms. The fact that all r and rd mice contain an identical defect and intron polymorphisms in the phosphodiesterase (3subunit gene settles beyond reasonable doubt that a single mutation arising >70 years ago is now widely distributed through inbred mouse strains. Because of the extensive use of the name in publications of the past 40 years, we propose that the gene continue to be designated retinal degeneration, rd.

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“…In rodents simple recessive autosomal genes are responsible for transmission (Sorsby, 1951 ;Sorsby et al, 1954).…”

Section: N a N I M A L S O T H E R T H A N T H E D O Gmentioning

confidence: 99%

Progressive retinal atrophy

Black¹

1972

J of Small Animal Practice

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A B S T R A C TThe literature on the genetics of progressive retinal atrophy has been reviewed with reference to hereditary degeneration of the retina in man and other animals. Of the possible modes of transmission only simple recessive autosomal genes have been unequivocally implicated. The British Veterinary Association Scheme to combat this illness is criticized as being unsuited to a recessively controlled condition which often makes its first appearance in mature animals. Criticisms are that the breeding potential of the afflicted animals is reduced inefficiently and in any case that afflicted dogs form only a small proportion of those carrying the gene. I t is suggested that a register be opened to note the afflicted, carrier and suspect carrier animals and that stronger pressures than at present be brought to bear on the owners to prevent breeding.

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Retinal dystrophy in the mouse: Histological and genetic aspects

Cited by 81 publications

References 6 publications

Sensitivity and integration in a visual pathway for circadian entrainment in the hamster (Mesocricetus auratus).

Sensitivity and integration in a visual pathway for circadian entrainment in the hamster (Mesocricetus auratus).

PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect.

Progressive retinal atrophy

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